Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_022336.4(EDAR):c.266G>A (p.Arg89His)	SNV Germline	Chr2:108929288	Pathogenic	Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant Mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA130257	rs_121908450	4 SubmittersRCV000006206 RCV000032598 RCV000681480 RCV001253315 RCV001038628
NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys)	SNV Germline	Chr15:89320883	Pathogenic/Likely pathogenic	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Mitochondrial disease Condition: not provided Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome	Criteria Provided Multiple Submitters No Conflicts	CA341291	rs_113994099	11 SubmittersRCV000014439 RCV000508934 RCV000676321 RCV000758267 RCV003478975
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)	SNV Germline	Chr15:89327201	Conflicting classifications of pathogenicity	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Spinocerebellar ataxia with epilepsy Progressive sclerosing poliodystrophy Condition: not provided Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 POLG-Related Spectrum Disorders Mitochondrial disease Mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy POLG-related disorder Mitochondrial DNA depletion syndrome 4b Tip-toe gait Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Neurodevelopmental delay Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Hereditary spastic paraplegia Inborn genetic diseases Intellectual disability	Criteria Provided Conflicting Classifications	CA123140	rs_113994095	49 SubmittersRCV000014440 RCV000014441 RCV000014442 RCV000014443 RCV000188658 RCV000184011 RCV000347876 RCV000508942 RCV001004604 RCV001095683 RCV001198082 RCV001376079 RCV001731286 RCV002273931 RCV001813983 RCV001847600 RCV002316195 RCV005624689
NM_002693.3(POLG):c.911T>G (p.Leu304Arg)	SNV Germline	Chr15:89329055	Pathogenic/Likely pathogenic	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Condition: not provided Progressive sclerosing poliodystrophy 6 conditions Inborn genetic diseases POLG-related disorder Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	Criteria Provided Multiple Submitters No Conflicts	CA256883	rs_121918044	18 SubmittersRCV000014444 RCV000188648 RCV000626287 RCV000762954 RCV001266602 RCV003387722 RCV005007843
NM_002693.3(POLG):c.1879C>T (p.Arg627Trp)	SNV Germline	Chr15:89325520	Pathogenic	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive sclerosing poliodystrophy Condition: not provided Mitochondrial DNA depletion syndrome Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Mitochondrial DNA depletion syndrome 4b	Criteria Provided Multiple Submitters No Conflicts	CA256887	rs_121918046	6 SubmittersRCV000014446 RCV001382679 RCV001781264 RCV004579531 RCV005003357
NM_002693.3(POLG):c.2794C>T (p.His932Tyr)	SNV Germline	Chr15:89320953	Pathogenic	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive sclerosing poliodystrophy Condition: not provided Mitochondrial DNA depletion syndrome Mitochondrial disease Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Mitochondrial DNA depletion syndrome 4b	Criteria Provided Multiple Submitters No Conflicts	CA256891	rs_121918048	7 SubmittersRCV000014454 RCV000758263 RCV001797046 RCV004700232 RCV004786259 RCV005007844
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg)	SNV Germline	Chr15:89319053	Pathogenic/Likely pathogenic	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Condition: not provided POLG-Related Spectrum Disorders Progressive sclerosing poliodystrophy See cases Autosomal dominant non-syndromic intellectual disability Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Mitochondrial DNA depletion syndrome 4b	Criteria Provided Multiple Submitters No Conflicts	CA256893	rs_121918049	12 SubmittersRCV000014455 RCV000188604 RCV000778451 RCV000226986 RCV002251905 RCV004760332 RCV005007845
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)	SNV Germline	Chr15:89321792	Pathogenic	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Condition: not provided POLG-Related Spectrum Disorders Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Hereditary spastic paraplegia Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome Mitochondrial disease Inborn genetic diseases POLG-related disorder 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA123144	rs_113994098	38 SubmittersRCV000014449 RCV000014450 RCV000014451 RCV000014452 RCV000188580 RCV000363602 RCV000678386 RCV001027839 RCV001847601 RCV002054437 RCV003230362 RCV002272018 RCV002313707 RCV003231103 RCV005364878
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)	SNV Germline	Chr15:89330184	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy Condition: not provided not specified POLG-Related Spectrum Disorders Global developmental delay Mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy Abnormality of the nervous system Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial disease Hypertrophic cardiomyopathy Hereditary spastic paraplegia Mitochondrial DNA depletion syndrome 1 Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis See cases Mitochondrial DNA depletion syndrome Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 6 conditions Tip-toe gait POLG-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA123142	rs_113994094	51 SubmittersRCV000014448 RCV000014447 RCV000184009 RCV000188641 RCV000194055 RCV000262479 RCV000415105 RCV001004407 RCV001813985 RCV001642225 RCV002272019 RCV002319423 RCV001847602 RCV000020484 RCV003458331 RCV004584325 RCV005406744 RCV005007846 RCV005357125 RCV001678594 RCV001813742 RCV002313708
NM_002693.3(POLG):c.2617G>T (p.Glu873Ter)	SNV Germline	Chr15:89321242	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA256889	rs_121918047	2 SubmittersRCV000014453
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	SNV Germline	Chr15:89325639	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome 4b Mitochondrial DNA depletion syndrome 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 not specified Mitochondrial disease Global developmental delay Progressive sclerosing poliodystrophy Condition: not provided Mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy Hereditary spastic paraplegia POLG-related disorder Hypertrophic cardiomyopathy See cases Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 6 conditions Tip-toe gait Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Abnormality of the nervous system Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA123146	rs_113994096	52 SubmittersRCV000014456 RCV000020473 RCV000186576 RCV000193529 RCV000508752 RCV000415307 RCV000408293 RCV000427845 RCV001004602 RCV001847603 RCV001813743 RCV002319424 RCV004584326 RCV003458332 RCV005357126 RCV001610290 RCV001642226 RCV001813986 RCV002313709
NM_002693.3(POLG):c.2591A>G (p.Asn864Ser)	SNV Germline	Chr15:89321743	Pathogenic	Mitochondrial DNA depletion syndrome 4b Mitochondrial DNA depletion syndrome Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA123148	rs_121918050	4 SubmittersRCV000014458 RCV004586006 RCV005007847 RCV002513043
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)	SNV Germline	Chr15:89323426	Pathogenic/Likely pathogenic	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Spinocerebellar ataxia with epilepsy Progressive sclerosing poliodystrophy Condition: not provided POLG-Related Spectrum Disorders Mitochondrial disease not specified Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Inborn genetic diseases POLG-related disorder Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA123150	rs_113994097	41 SubmittersRCV000014459 RCV000014460 RCV000014461 RCV000080023 RCV000313739 RCV000508846 RCV000507757 RCV001198081 RCV002247336 RCV002313710 RCV003985719 RCV005007848 RCV005364879
NM_002693.3(POLG):c.2869G>T (p.Ala957Ser)	SNV Germline	Chr15:89320878	Pathogenic/Likely pathogenic	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive sclerosing poliodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA256895	rs_121918051	3 SubmittersRCV000014462 RCV003460472
NM_002693.3(POLG):c.3057G>A (p.Trp1019Ter)	SNV Germline	Chr15:89319275	Pathogenic	Progressive sclerosing poliodystrophy	No Assertion Criteria Provided	CA393751344	rs_1567185775	1 SubmittersRCV000014465
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp)	SNV Germline	Chr15:89321777	Conflicting classifications of pathogenicity	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy not specified Condition: not provided Mitochondrial DNA depletion syndrome Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	Criteria Provided Conflicting Classifications	CA256899	rs_121918053	7 SubmittersRCV000014466 RCV000560575 RCV001449754 RCV003333951 RCV003330388 RCV005007849
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)	SNV Germline	Chr15:89323460	Pathogenic/Likely pathogenic	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy Condition: not provided Mitochondrial disease POLG-Related Spectrum Disorders Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Inborn genetic diseases POLG-related disorder Hereditary spastic paraplegia Tip-toe gait	Criteria Provided Multiple Submitters No Conflicts	CA201029	rs_121918054	34 SubmittersRCV000014467 RCV000233045 RCV000188568 RCV000508744 RCV000370280 RCV000768053 RCV001004601 RCV001813987 RCV002316196 RCV003985721 RCV001847605 RCV003318542
NM_002693.3(POLG):c.679C>T (p.Arg227Trp)	SNV Germline	Chr15:89330257	Pathogenic/Likely pathogenic	Mitochondrial DNA depletion syndrome 4b Condition: not provided Progressive sclerosing poliodystrophy Abnormality of corpus callosum Inborn genetic diseases Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Mitochondrial DNA depletion syndrome 4b Mitochondrial DNA depletion syndrome	Criteria Provided Multiple Submitters No Conflicts	CA123154	rs_121918056	12 SubmittersRCV000014469 RCV000255169 RCV000525480 RCV000787362 RCV002513044 RCV005007850 RCV004586007
NM_002693.3(POLG):c.3218C>T (p.Pro1073Leu)	SNV Germline	Chr15:89318986	Pathogenic	Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA123156	rs_267606959	7 SubmittersRCV000014470 RCV000014471 RCV000188673
NM_002693.3(POLG):c.3436C>T (p.Arg1146Cys)	SNV Germline	Chr15:89318587	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy not specified	Criteria Provided Conflicting Classifications	CA292845	rs_2307440	8 SubmittersRCV000513124 RCV000545884 RCV005406757
NM_002693.3(POLG):c.695G>A (p.Arg232His)	SNV Germline	Chr15:89330241	Pathogenic	Mitochondrial disease Condition: not provided Mitochondrial DNA depletion syndrome Progressive sclerosing poliodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA341891	rs_113994093	4 SubmittersRCV000020483 RCV000412961 RCV005237397 RCV003514301
NM_002693.3(POLG):c.970C>T (p.Pro324Ser)	SNV Germline	Chr15:89328996	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy Condition: not provided POLG-Related Spectrum Disorders Hereditary spastic paraplegia Inborn genetic diseases POLG-related disorder Charcot-Marie-Tooth disease	Criteria Provided Conflicting Classifications	CA292863	rs_2307437	18 SubmittersRCV000127555 RCV000468571 RCV000710190 RCV001121509 RCV001847613 RCV002371780 RCV004732552 RCV005624701
NM_002693.3(POLG):c.264C>T (p.Phe88=)	SNV Germline	Chr15:89333491	Conflicting classifications of pathogenicity	not specified Condition: not provided Progressive sclerosing poliodystrophy Inborn genetic diseases POLG-Related Spectrum Disorders Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA288984	rs_144439703	17 SubmittersRCV000118014 RCV000436920 RCV000227341 RCV002313915 RCV001116623 RCV001847711
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala)	SNV Germline	Chr15:89319073	Conflicting classifications of pathogenicity	Condition: not provided 6 conditions EEG abnormality Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Mitochondrial DNA depletion syndrome 4b not specified POLG-related disorder Hereditary spastic paraplegia Early-onset Parkinson disease 20 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA231404	rs_150233690	17 SubmittersRCV000118016 RCV000515366 RCV000678829 RCV000234341 RCV002243762 RCV003330442 RCV004732689 RCV001847713 RCV002272131 RCV002316314
NM_002693.3(POLG):c.3482+7G>A	SNV Germline	Chr15:89318534	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA288988	rs_200309191	6 SubmittersRCV000118019 RCV000633572 RCV000726902
NM_002693.3(POLG):c.2028G>A (p.Ala676=)	SNV Germline	Chr15:89324149	Conflicting classifications of pathogenicity	POLG-Related Spectrum Disorders not specified Progressive sclerosing poliodystrophy Hereditary spastic paraplegia Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA292825	rs_373550219	9 SubmittersRCV000263177 RCV000127516 RCV000457002 RCV001847749 RCV000710184 RCV002415616
NM_002693.3(POLG):c.2071-14T>G	SNV Germline	Chr15:89323915	Conflicting classifications of pathogenicity	not specified POLG-Related Spectrum Disorders Progressive sclerosing poliodystrophy POLG-related disorder	Criteria Provided Conflicting Classifications	CA292827	rs_150088708	5 SubmittersRCV000127517 RCV000373859 RCV000758509 RCV003985727
NM_002693.3(POLG):c.2109C>T (p.Ala703=)	SNV Germline	Chr15:89323863	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy POLG-Related Spectrum Disorders Condition: not provided Inborn genetic diseases POLG-related disorder	Criteria Provided Conflicting Classifications	CA292828	rs_2307429	6 SubmittersRCV000127519 RCV000869076 RCV001119423 RCV001289153 RCV002415617 RCV003985728
NM_002693.3(POLG):c.2157+11C>T	SNV Germline	Chr15:89323804	Conflicting classifications of pathogenicity	not specified POLG-Related Spectrum Disorders Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA292829	rs_56411159	4 SubmittersRCV000127520 RCV000316850 RCV000758558
NM_002693.3(POLG):c.2481-7C>T	SNV Germline	Chr15:89321860	Conflicting classifications of pathogenicity	not specified Condition: not provided Progressive sclerosing poliodystrophy Tip-toe gait POLG-related disorder Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA292830	rs_2307448	16 SubmittersRCV000212876 RCV000676323 RCV000474664 RCV001327991 RCV003985729 RCV001847750
NM_002693.3(POLG):c.2541C>T (p.Ala847=)	SNV Germline	Chr15:89321793	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy Condition: not provided Inborn genetic diseases POLG-Related Spectrum Disorders	Criteria Provided Conflicting Classifications	CA292831	rs_143810171	8 SubmittersRCV000127524 RCV000470778 RCV000710185 RCV002316395 RCV001117865
NM_002693.3(POLG):c.2601T>C (p.Pro867=)	SNV Germline	Chr15:89321258	Conflicting classifications of pathogenicity	not specified POLG-Related Spectrum Disorders Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive sclerosing poliodystrophy Condition: not provided POLG-related disorder	Criteria Provided Conflicting Classifications	CA292834	rs_201749977	6 SubmittersRCV000127526 RCV000403402 RCV001457683 RCV000709782 RCV000734626 RCV003985730
NM_002693.3(POLG):c.2735-7C>G	SNV Germline	Chr15:89321019	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy Condition: not provided POLG-Related Spectrum Disorders	Criteria Provided Conflicting Classifications	CA292837	rs_200372494	7 SubmittersRCV000127528 RCV000463735 RCV000658724 RCV001116419
NM_002693.3(POLG):c.2853C>T (p.Tyr951=)	SNV Germline	Chr15:89320894	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy Condition: not provided POLG-Related Spectrum Disorders Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA232559	rs_41546712	12 SubmittersRCV000186650 RCV000471041 RCV000712796 RCV001116417 RCV001847751 RCV002316396
NM_002693.3(POLG):c.87C>T (p.Ser29=)	SNV Germline	Chr15:89333668	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy POLG-Related Spectrum Disorders Inborn genetic diseases Condition: not provided POLG-related disorder Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA292838	rs_587781116	8 SubmittersRCV000127532 RCV000861520 RCV001116626 RCV002371969 RCV001288358 RCV003985731 RCV001847752
NM_002693.3(POLG):c.3198G>A (p.Thr1066=)	SNV Germline	Chr15:89319006	Conflicting classifications of pathogenicity	not specified POLG-Related Spectrum Disorders Progressive sclerosing poliodystrophy Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA292840	rs_61752780	14 SubmittersRCV000127533 RCV000338380 RCV000475971 RCV000676319 RCV001847753 RCV002312589
NM_002693.3(POLG):c.3216C>G (p.Thr1072=)	SNV Germline	Chr15:89318988	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA232561	rs_146936870	7 SubmittersRCV000186651 RCV000697212 RCV000723849 RCV002321613
NM_002693.3(POLG):c.3482+6C>T	SNV Germline	Chr15:89318535	Conflicting classifications of pathogenicity	not specified POLG-Related Spectrum Disorders Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive sclerosing poliodystrophy Progressive sclerosing poliodystrophy Condition: not provided Hereditary spastic paraplegia Mitochondrial DNA depletion syndrome 4b	Criteria Provided Conflicting Classifications	CA292847	rs_55779802	10 SubmittersRCV000127539 RCV000316461 RCV000768049 RCV000559092 RCV000726414 RCV001847754 RCV003441747
NM_002693.3(POLG):c.3564C>T (p.Cys1188=)	SNV Germline	Chr15:89317455	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy Hereditary spastic paraplegia Condition: not provided	Criteria Provided Conflicting Classifications	CA292854	rs_146584956	5 SubmittersRCV000127546 RCV000547592 RCV001847755 RCV003311689
NM_002693.3(POLG):c.3700C>A (p.Arg1234=)	SNV Germline	Chr15:89316771	Conflicting classifications of pathogenicity	not specified Condition: not provided Progressive sclerosing poliodystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA292858	rs_144346886	7 SubmittersRCV000127550 RCV000710187 RCV000536053 RCV002345437
NM_002693.3(POLG):c.798G>T (p.Val266=)	SNV Germline	Chr15:89330138	Conflicting classifications of pathogenicity	not specified POLG-Related Spectrum Disorders Progressive sclerosing poliodystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA232563	rs_143631183	10 SubmittersRCV000186652 RCV000297854 RCV000554937 RCV000723862 RCV002316397
NM_002693.3(POLG):c.975C>A (p.Pro325=)	SNV Germline	Chr15:89328991	Conflicting classifications of pathogenicity	not specified Condition: not provided Progressive sclerosing poliodystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA292865	rs_551973680	6 SubmittersRCV000127556 RCV000727457 RCV001084800 RCV002312591
NM_002693.3(POLG):c.1066C>T (p.Leu356=)	SNV Germline	Chr15:89328789	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy Condition: not provided POLG-Related Spectrum Disorders Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA292867	rs_371431444	9 SubmittersRCV000127557 RCV000476514 RCV000726665 RCV001119513 RCV002408634
NM_002693.3(POLG):c.1275C>T (p.Ala425=)	SNV Germline	Chr15:89327325	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy Condition: not provided Inborn genetic diseases Hereditary spastic paraplegia POLG-related disorder	Criteria Provided Conflicting Classifications	CA292871	rs_147404477	11 SubmittersRCV000127559 RCV000558064 RCV000725687 RCV002371970 RCV001847757 RCV003985732
NM_002693.3(POLG):c.1386G>A (p.Ser462=)	SNV Germline	Chr15:89327214	Conflicting classifications of pathogenicity	not specified Hereditary spastic paraplegia POLG-Related Spectrum Disorders POLG-related disorder Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA292873	rs_62640034	7 SubmittersRCV000127560 RCV001847758 RCV000402563 RCV003985733 RCV000725999 RCV000758496
NM_002693.3(POLG):c.1585+11T>C	SNV Germline	Chr15:89326901	Conflicting classifications of pathogenicity	not specified POLG-Related Spectrum Disorders Progressive sclerosing poliodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA292875	rs_201566815	6 SubmittersRCV000127561 RCV000290628 RCV000758502 RCV001529836
NM_002693.3(POLG):c.1713-5C>T	SNV Germline	Chr15:89325691	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy POLG-related disorder	Criteria Provided Conflicting Classifications	CA292879	rs_148494026	5 SubmittersRCV000127564 RCV000758408 RCV003985734
NM_002693.3(POLG):c.1743C>T (p.Asp581=)	SNV Germline	Chr15:89325656	Conflicting classifications of pathogenicity	not specified POLG-Related Spectrum Disorders Progressive sclerosing poliodystrophy Inborn genetic diseases POLG-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA292880	rs_140743000	9 SubmittersRCV000127565 RCV000382683 RCV000758355 RCV002312592 RCV003985735 RCV003398746
NM_002693.3(POLG):c.1837C>T (p.His613Tyr)	SNV Germline	Chr15:89325562	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy Condition: not provided Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Mitochondrial DNA depletion syndrome 4b Inborn genetic diseases POLG-related disorder Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b	Criteria Provided Conflicting Classifications	CA302712	rs_147407423	14 SubmittersRCV000173762 RCV000538134 RCV000710183 RCV000768055 RCV002313026 RCV003985737 RCV004799186
NM_002693.3(POLG):c.1956C>T (p.Ile652=)	SNV Germline	Chr15:89324221	Conflicting classifications of pathogenicity	not specified Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA239534	rs_757860628	3 SubmittersRCV000174067 RCV000724790 RCV001413886
NM_002693.3(POLG):c.2724C>T (p.Ala908=)	SNV Germline	Chr15:89321135	Conflicting classifications of pathogenicity	not specified Condition: not provided Progressive sclerosing poliodystrophy POLG-Related Spectrum Disorders Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA240872	rs_377390914	8 SubmittersRCV000188516 RCV000676322 RCV001080845 RCV001116420 RCV002453613
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys)	SNV Germline	Chr15:89320890	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 POLG-Related Spectrum Disorders POLG-related disorder	Criteria Provided Conflicting Classifications	CA241026	rs_11546842	10 SubmittersRCV000175301 RCV000758266 RCV001808449 RCV003323426 RCV004732740
NM_002693.3(POLG):c.114G>T (p.Gly38=)	SNV Germline	Chr15:89333641	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy POLG-related disorder 6 conditions	Criteria Provided Conflicting Classifications	CA241473	rs_794727268	4 SubmittersRCV000175729 RCV001852155 RCV004732741 RCV002485137
NM_002693.3(POLG):c.131A>G (p.Gln44Arg)	SNV Germline	Chr15:89333624	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Progressive sclerosing poliodystrophy POLG-related disorder 6 conditions	Criteria Provided Conflicting Classifications	CA241477	rs_757120802	9 SubmittersRCV000724683 RCV002381572 RCV000551143 RCV003985738 RCV005396531
NM_002693.3(POLG):c.603C>T (p.Val201=)	SNV Germline	Chr15:89333152	Conflicting classifications of pathogenicity	not specified Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA241479	rs_768005050	4 SubmittersRCV000188637 RCV000724613 RCV001417417
NM_002693.3(POLG):c.32G>A (p.Gly11Asp)	SNV Germline	Chr15:89333723	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy POLG-Related Spectrum Disorders Inborn genetic diseases Hereditary spastic paraplegia not specified POLG-related disorder Condition: not provided 6 conditions Intellectual disability	Criteria Provided Conflicting Classifications	CA302812	rs_765472726	16 SubmittersRCV000633544 RCV001116627 RCV002453618 RCV001847811 RCV004526626 RCV003985740 RCV000724132 RCV000763999 RCV001252351
NM_002693.3(POLG):c.803G>C (p.Gly268Ala)	SNV Germline	Chr15:89330133	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy POLG-related disorder Condition: not provided Inborn genetic diseases Hereditary spastic paraplegia Tip-toe gait Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b POLG-Related Spectrum Disorders Charcot-Marie-Tooth disease axonal type 2U	Criteria Provided Conflicting Classifications	CA202319	rs_61752784	21 SubmittersRCV000177165 RCV000233823 RCV000709833 RCV000415771 RCV002312719 RCV001847817 RCV002227084 RCV000768291 RCV001121511 RCV002516726
NM_002693.3(POLG):c.1174C>G (p.Leu392Val)	SNV Germline	Chr15:89328532	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy 6 conditions Condition: not provided POLG-Related Spectrum Disorders Hereditary spastic paraplegia Inborn genetic diseases POLG-related disorder	Criteria Provided Conflicting Classifications	CA246660	rs_145289229	14 SubmittersRCV000188651 RCV000475753 RCV000515415 RCV000710181 RCV001119511 RCV001847818 RCV002317054 RCV003985741
NM_002693.3(POLG):c.3652C>T (p.Leu1218=)	SNV Germline	Chr15:89316819	Conflicting classifications of pathogenicity	not specified Condition: not provided Progressive sclerosing poliodystrophy POLG-related disorder	Criteria Provided Conflicting Classifications	CA316629	rs_146301349	5 SubmittersRCV000188539 RCV000726207 RCV000758388 RCV003985749
NM_002693.3(POLG):c.3630C>G (p.Tyr1210Ter)	SNV Germline	Chr15:89317389	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA316790	rs_139562274	2 SubmittersRCV001878352
NM_002693.3(POLG):c.3586G>A (p.Asp1196Asn)	SNV Germline	Chr15:89317433	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy Hereditary spastic paraplegia not specified	Criteria Provided Conflicting Classifications	CA316786	rs_765344513	5 SubmittersRCV000188628 RCV000758333 RCV001847833 RCV005431539
NM_002693.3(POLG):c.3559C>T (p.Arg1187Trp)	SNV Germline	Chr15:89317460	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases POLG-related disorder	Criteria Provided Conflicting Classifications	CA316784	rs_369544574	10 SubmittersRCV000188627 RCV000633564 RCV000712805 RCV001847832 RCV002453696 RCV003985759
NM_002693.3(POLG):c.3516C>G (p.Asp1172Glu)	SNV Germline	Chr15:89317503	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA316782	rs_766196697	2 SubmittersRCV000188626 RCV000758328
NM_002693.3(POLG):c.3509T>G (p.Leu1170Arg)	SNV Germline	Chr15:89317510	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA316875	rs_796052913	4 SubmittersRCV000758327
NM_002693.3(POLG):c.3470A>G (p.Asn1157Ser)	SNV Germline	Chr15:89318553	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA316774	rs_548076633	3 SubmittersRCV000188622 RCV000758478
NM_002693.3(POLG):c.3450C>T (p.Ala1150=)	SNV Germline	Chr15:89318573	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA316608	rs_774880085	7 SubmittersRCV000188527 RCV000758476 RCV000734120 RCV002317141
NM_002693.3(POLG):c.3406G>A (p.Glu1136Lys)	SNV Germline	Chr15:89318617	Pathogenic/Likely pathogenic	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA316760	rs_56047213	3 SubmittersRCV000188615 RCV001857636
NM_002693.3(POLG):c.3313G>C (p.Ala1105Pro)	SNV Germline	Chr15:89318710	Likely pathogenic	Condition: not provided Mitochondrial disease Progressive sclerosing poliodystrophy not specified	Reviewed By Expert Panel	CA316764	rs_753410045	4 SubmittersRCV000188617 RCV001753589 RCV002514035 RCV004586613
NM_002693.3(POLG):c.3287G>T (p.Arg1096Leu)	SNV Germline	Chr15:89318736	Pathogenic/Likely pathogenic	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA316762	rs_368435864	2 SubmittersRCV000188616 RCV001857637
NM_002693.3(POLG):c.3287G>A (p.Arg1096His)	SNV Germline	Chr15:89318736	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy Inborn genetic diseases Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b POLG-Related Spectrum Disorders POLG-related disorder	Criteria Provided Conflicting Classifications	CA316758	rs_368435864	9 SubmittersRCV000188614 RCV000551933 RCV002314742 RCV005003545 RCV003479051 RCV004732766
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys)	SNV Germline	Chr15:89318737	Likely pathogenic	Condition: not provided Progressive sclerosing poliodystrophy Mitochondrial disease Abnormality of the nervous system Childhood myocerebrohepatopathy spectrum 6 conditions Mitochondrial DNA depletion syndrome 4b Recessive mitochondrial ataxia syndrome POLG-related disorder Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome	Reviewed By Expert Panel	CA316756	rs_201732356	16 SubmittersRCV000188613 RCV000758420 RCV001753588 RCV001814095 RCV001263172 RCV000762952 RCV003984830 RCV004798801 RCV003985757 RCV005252129 RCV004700573
NM_002693.3(POLG):c.3286C>G (p.Arg1096Gly)	SNV Germline	Chr15:89318737	Pathogenic/Likely pathogenic	Condition: not provided Mitochondrial DNA depletion syndrome Progressive sclerosing poliodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA316754	rs_201732356	5 SubmittersRCV000188612 RCV003330555 RCV001059624
NM_002693.3(POLG):c.3167A>C (p.Glu1056Ala)	SNV Germline	Chr15:89319037	Conflicting classifications of pathogenicity	not specified POLG-related disorder Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA316600	rs_768571276	3 SubmittersRCV000188522 RCV004732760 RCV002517882
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp)	SNV Germline	Chr15:89319065	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Inborn genetic diseases Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Spinocerebellar ataxia with epilepsy POLG-related disorder Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 6 conditions Mitochondrial DNA depletion syndrome	Criteria Provided Conflicting Classifications	CA316740	rs_181860632	20 SubmittersRCV000188603 RCV000633548 RCV001808470 RCV002247605 RCV002317146 RCV003483565 RCV004732764 RCV004796081 RCV005365111 RCV005418005
NM_002693.3(POLG):c.3104+8C>A	SNV Germline	Chr15:89319220	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA316598	rs_754615624	4 SubmittersRCV000188520 RCV000526953 RCV000726786
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val)	SNV Germline	Chr15:89319234	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Condition: not provided 6 conditions POLG-Related Spectrum Disorders Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Inborn genetic diseases Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Mitochondrial DNA depletion syndrome 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b POLG-related disorder	Criteria Provided Conflicting Classifications	CA316596	rs_551708243	13 SubmittersRCV000551001 RCV000710186 RCV000765239 RCV001121338 RCV001332169 RCV004955314 RCV005361098 RCV004732759
NM_002693.3(POLG):c.2982-6C>A	SNV Germline	Chr15:89319356	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA316729	rs_796052892	2 SubmittersRCV000188596 RCV003765199
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)	SNV Germline	Chr15:89320857	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy Spinocerebellar atrophy Hereditary spastic paraplegia Mitochondrial DNA depletion syndrome 4b not specified Inborn genetic diseases MELAS syndrome Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 POLG-related disorder Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 6 conditions	Criteria Provided Conflicting Classifications	CA316719	rs_201477273	22 SubmittersRCV000188591 RCV000490261 RCV000633558 RCV000984890 RCV001847830 RCV001808469 RCV002247604 RCV002317145 RCV003232987 RCV003992217 RCV004732762 RCV004796080 RCV005361099
NM_002693.3(POLG):c.2636A>G (p.Gln879Arg)	SNV Germline	Chr15:89321223	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA316709	rs_368587966	4 SubmittersRCV000188586 RCV000758312
NM_002693.3(POLG):c.2620T>A (p.Leu874Met)	SNV Germline	Chr15:89321239	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy Condition: not provided Mitochondrial DNA depletion syndrome 4b POLG-related disorder	Criteria Provided Conflicting Classifications	CA316707	rs_758402960	7 SubmittersRCV000188585 RCV000758311 RCV000766616 RCV003441772 RCV003985756
NM_002693.3(POLG):c.2558G>A (p.Arg853Gln)	SNV Germline	Chr15:89321776	Pathogenic/Likely pathogenic	Condition: not provided Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Mitochondrial DNA depletion syndrome	Criteria Provided Multiple Submitters No Conflicts	CA316703	rs_796052888	6 SubmittersRCV000188583 RCV000758451 RCV003137764 RCV003330554
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys)	SNV Germline	Chr15:89321780	Pathogenic	Condition: not provided Progressive sclerosing poliodystrophy 6 conditions Intellectual disability Hereditary spastic paraplegia Inborn genetic diseases POLG-Related Spectrum Disorders Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 POLG-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA316701	rs_144500145	16 SubmittersRCV000188581 RCV000633537 RCV000762953 RCV001252349 RCV001847829 RCV002517007 RCV004526636 RCV004786515 RCV005256576
NM_002693.3(POLG):c.2529A>G (p.Gln843=)	SNV Germline	Chr15:89321805	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA316699	rs_369395629	3 SubmittersRCV000188579 RCV000798168
NM_002693.3(POLG):c.2420G>A (p.Arg807His)	SNV Germline	Chr15:89322748	Pathogenic/Likely pathogenic	Condition: not provided Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b	Criteria Provided Multiple Submitters No Conflicts	CA316691	rs_796052887	5 SubmittersRCV000188575 RCV000758305 RCV005003543
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser)	SNV Germline	Chr15:89323423	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy POLG-Related Spectrum Disorders Inborn genetic diseases Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis POLG-related disorder	Criteria Provided Conflicting Classifications	CA316685	rs_202037973	14 SubmittersRCV000188572 RCV000758416 RCV001270867 RCV002514034 RCV005008114 RCV004799198 RCV003985755
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser)	SNV Germline	Chr15:89323462	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy 6 conditions Condition: not provided POLG-Related Spectrum Disorders Intellectual disability Tip-toe gait Inborn genetic diseases POLG-related disorder	Criteria Provided Conflicting Classifications	CA316678	rs_138457939	17 SubmittersRCV000188567 RCV000231376 RCV000515256 RCV000712791 RCV001119421 RCV001252353 RCV002227937 RCV002314741 RCV003985754
NM_002693.3(POLG):c.2051A>G (p.Asn684Ser)	SNV Germline	Chr15:89324126	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Condition: not provided Inborn genetic diseases POLG-related disorder	Criteria Provided Conflicting Classifications	CA316660	rs_202244328	7 SubmittersRCV000820821 RCV001705036 RCV002314740 RCV003483564
NM_002693.3(POLG):c.2021G>A (p.Gly674Asp)	SNV Germline	Chr15:89324156	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 POLG-Related Spectrum Disorders Condition: not provided Inborn genetic diseases POLG-related disorder	Criteria Provided Conflicting Classifications	CA316585	rs_200257554	9 SubmittersRCV000188510 RCV000633561 RCV000768054 RCV001121414 RCV001721213 RCV002317140 RCV003985742
NM_002693.3(POLG):c.1943C>G (p.Pro648Arg)	SNV Germline	Chr15:89325456	Pathogenic/Likely pathogenic	Condition: not provided Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b	Criteria Provided Multiple Submitters No Conflicts	CA316854	rs_796052906	6 SubmittersRCV000188671 RCV000702972 RCV002288793 RCV005008119
NM_002693.3(POLG):c.1898A>C (p.Lys633Thr)	SNV Germline	Chr15:89325501	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy Condition: not provided POLG-Related Spectrum Disorders POLG-related disorder	Criteria Provided Conflicting Classifications	CA316852	rs_568913937	8 SubmittersRCV000188670 RCV000551532 RCV000732615 RCV001116517 RCV003985762
NM_002693.3(POLG):c.1868T>G (p.Leu623Trp)	SNV Germline	Chr15:89325531	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA316848	rs_758438414	3 SubmittersRCV000188668 RCV001336494
NM_002693.3(POLG):c.1808T>C (p.Met603Thr)	SNV Germline	Chr15:89325591	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy not specified	Criteria Provided Conflicting Classifications	CA316846	rs_367610201	6 SubmittersRCV000188667 RCV001847837 RCV001814096 RCV001348402 RCV003226244
NM_002693.3(POLG):c.1716G>A (p.Trp572Ter)	SNV Germline	Chr15:89325683	Pathogenic/Likely pathogenic	Condition: not provided Progressive sclerosing poliodystrophy POLG-related disorder Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b	Criteria Provided Multiple Submitters No Conflicts	CA316842	rs_767709505	4 SubmittersRCV000188664 RCV002517886 RCV003985761 RCV005008118
NM_002693.3(POLG):c.1599C>G (p.Cys533Trp)	SNV Germline	Chr15:89326725	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy POLG-Related Spectrum Disorders Condition: not provided	Criteria Provided Conflicting Classifications	CA316646	rs_754246294	4 SubmittersRCV000188551 RCV001852488 RCV001117968 RCV003133166
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)	SNV Germline	Chr15:89327198	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Condition: not provided Lennox-Gastaut syndrome 6 conditions Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b POLG-Related Spectrum Disorders Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Hereditary spastic paraplegia Inborn genetic diseases not specified Mitochondrial disease POLG-related disorder Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	Criteria Provided Conflicting Classifications	CA316834	rs_145843073	25 SubmittersRCV000470781 RCV000658725 RCV000678827 RCV000763995 RCV001027840 RCV001004603 RCV001117972 RCV001330959 RCV001610504 RCV001847836 RCV002314743 RCV003230444 RCV004786516 RCV004725036 RCV004799199
NM_002693.3(POLG):c.1311C>T (p.Val437=)	SNV Germline	Chr15:89327289	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy POLG-Related Spectrum Disorders POLG-related disorder	Criteria Provided Conflicting Classifications	CA316642	rs_62640035	5 SubmittersRCV000188549 RCV000758494 RCV001119510 RCV003985751
NM_002693.3(POLG):c.1300T>C (p.Tyr434His)	SNV Germline	Chr15:89327300	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA316826	rs_775538075	2 SubmittersRCV000188654 RCV001852491
NM_002693.3(POLG):c.1283T>C (p.Leu428Pro)	SNV Germline	Chr15:89327317	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA316824	rs_774610098	2 SubmittersRCV001205060
NM_002693.3(POLG):c.1250+5G>T	SNV Germline	Chr15:89328451	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA316823	rs_751221993	4 SubmittersRCV000712786 RCV000471060
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys)	SNV Germline	Chr15:89328699	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy POLG-related disorder Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b	Criteria Provided Conflicting Classifications	CA316821	rs_199759055	12 SubmittersRCV000188650 RCV000660573 RCV000758259 RCV004732770 RCV003989500 RCV005008117
NM_002693.3(POLG):c.1060A>G (p.Asn354Asp)	SNV Germline	Chr15:89328795	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA316890	rs_796052916	2 SubmittersRCV000188692 RCV002514038
NM_002693.3(POLG):c.1023+13T>G	SNV Germline	Chr15:89328930	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA316641	rs_201874835	2 SubmittersRCV000188548 RCV003514325
NM_002693.3(POLG):c.915C>G (p.Ser305Arg)	SNV Germline	Chr15:89329051	Pathogenic/Likely pathogenic	Condition: not provided Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA316819	rs_769410130	7 SubmittersRCV000188649 RCV000758271 RCV000995844 RCV001332170 RCV002372152
NM_002693.3(POLG):c.862C>T (p.Arg288Cys)	SNV Germline	Chr15:89329104	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA316815	rs_564582352	4 SubmittersRCV000188646 RCV000768290 RCV000806434
NM_002693.3(POLG):c.830A>T (p.His277Leu)	SNV Germline	Chr15:89330106	Conflicting classifications of pathogenicity	Condition: not provided Mitochondrial DNA depletion syndrome Progressive sclerosing poliodystrophy Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Hereditary spastic paraplegia Inborn genetic diseases not specified Tip-toe gait Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b 6 conditions	Criteria Provided Conflicting Classifications	CA316810	rs_138929605	19 SubmittersRCV000188643 RCV000616176 RCV000231645 RCV001004406 RCV001847834 RCV002514036 RCV003235111 RCV002226693 RCV005008116 RCV005396564
NM_002693.3(POLG):c.678G>C (p.Gln226His)	SNV Germline	Chr15:89330258	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Autism Seizure Condition: not provided POLG-Related Spectrum Disorders Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Inborn genetic diseases not specified POLG-related disorder 6 conditions	Criteria Provided Conflicting Classifications	CA316806	rs_147282197	18 SubmittersRCV000633538 RCV000678826 RCV000710188 RCV001121513 RCV001263148 RCV001808471 RCV002362986 RCV003317141 RCV004732768 RCV005396563
NM_002693.3(POLG):c.581C>T (p.Ala194Val)	SNV Germline	Chr15:89333174	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA316636	rs_779122022	4 SubmittersRCV000188544 RCV001044308 RCV000727522 RCV002354530
NM_002693.3(POLG):c.428C>T (p.Ala143Val)	SNV Germline	Chr15:89333327	Pathogenic/Likely pathogenic	Progressive sclerosing poliodystrophy POLG-Related Spectrum Disorders Condition: not provided Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	Criteria Provided Multiple Submitters No Conflicts	CA316798	rs_796052899	8 SubmittersRCV000758269 RCV000779176 RCV000995420 RCV002288792
NM_002693.3(POLG):c.408C>G (p.Asp136Glu)	SNV Germline	Chr15:89333347	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Condition: not provided Inborn genetic diseases POLG-related disorder	Criteria Provided Conflicting Classifications	CA316796	rs_115109291	9 SubmittersRCV000758561 RCV000514076 RCV002321762 RCV003985760
NM_002693.3(POLG):c.391T>C (p.Tyr131His)	SNV Germline	Chr15:89333364	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Primary progressive multiple sclerosis Mitochondrial DNA depletion syndrome Condition: not provided POLG-Related Spectrum Disorders Intellectual disability Inborn genetic diseases POLG-related disorder not specified Mitochondrial disease	Criteria Provided Conflicting Classifications	CA316634	rs_562847013	16 SubmittersRCV000469850 RCV000578205 RCV000726559 RCV001116622 RCV001252352 RCV002321761 RCV003985750 RCV003993876 RCV004786514
NM_002693.3(POLG):c.346C>T (p.Pro116Ser)	SNV Germline	Chr15:89333409	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy 6 conditions	Criteria Provided Conflicting Classifications	CA316879	rs_771676521	3 SubmittersRCV000188686 RCV001307238 RCV002500576
NM_002693.3(POLG):c.328C>T (p.His110Tyr)	SNV Germline	Chr15:89333427	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Condition: not provided Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA316877	rs_139599587	10 SubmittersRCV000461638 RCV000727081 RCV000768048 RCV001804925 RCV002317148
NM_002693.3(POLG):c.154C>A (p.Gln52Lys)	SNV Germline	Chr15:89333601	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Condition: not provided Inborn genetic diseases POLG-related disorder	Criteria Provided Conflicting Classifications	CA316623	rs_376683989	7 SubmittersRCV000758285 RCV000992680 RCV002399700 RCV003985748
NM_002693.3(POLG):c.125G>A (p.Arg42Gln)	SNV Germline	Chr15:89333630	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy Hereditary spastic paraplegia POLG-related disorder	Criteria Provided Conflicting Classifications	CA316606	rs_74382477	5 SubmittersRCV000676334 RCV000545670 RCV001847824 RCV003985745
NM_002693.3(POLG):c.116A>G (p.Gln39Arg)	SNV Germline	Chr15:89333639	Conflicting classifications of pathogenicity	not specified Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA316602	rs_749750052	5 SubmittersRCV000188523 RCV000723678 RCV001852486
NM_002693.3(POLG):c.970C>A (p.Pro324Thr)	SNV Germline	Chr15:89328996	Conflicting classifications of pathogenicity	not specified Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA209652	rs_2307437	6 SubmittersRCV000195076 RCV000992693 RCV000701310
NM_002693.3(POLG):c.2663G>A (p.Gly888Asp)	SNV Germline	Chr15:89321196	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Mitochondrial disease	Criteria Provided Conflicting Classifications	CA10583269	rs_878854560	3 SubmittersRCV000227514 RCV004786619
NM_002693.3(POLG):c.2220C>T (p.Asn740=)	SNV Germline	Chr15:89323449	Conflicting classifications of pathogenicity	not specified Condition: not provided Progressive sclerosing poliodystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7724541	rs_141538857	7 SubmittersRCV000249671 RCV000727336 RCV000539923 RCV002313981
NM_002693.3(POLG):c.1433+1G>A	SNV Germline	Chr15:89327166	Pathogenic	Condition: not provided Progressive sclerosing poliodystrophy POLG-related disorder Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b	Criteria Provided Multiple Submitters No Conflicts	CA7724864	rs_771623994	6 SubmittersRCV000359026 RCV000758422 RCV003985766 RCV005003603
NM_002693.3(POLG):c.202C>T (p.Gln68Ter)	SNV Germline	Chr15:89333553	Pathogenic	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10602212	rs_202039305	4 SubmittersRCV000296330 RCV000758262
NM_002693.3(POLG):c.2870C>T (p.Ala957Val)	SNV Germline	Chr15:89320877	Pathogenic/Likely pathogenic	Condition: not provided Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome	Criteria Provided Multiple Submitters No Conflicts	CA7724336	rs_753160398	6 SubmittersRCV000304218 RCV000758268 RCV005431583
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys)	SNV Germline	Chr15:89322749	Pathogenic	Condition: not provided Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis POLG-related disorder Neonatal seizure Mitochondrial DNA depletion syndrome 4b Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive sclerosing poliodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA7724495	rs_769827124	10 SubmittersRCV000261805 RCV000547242 RCV000626194 RCV001263147 RCV004732814 RCV004819196 RCV005008229
NM_002693.3(POLG):c.925C>T (p.Arg309Cys)	SNV Germline	Chr15:89329041	Pathogenic	Condition: not provided Progressive sclerosing poliodystrophy 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA10603352	rs_886041592	8 SubmittersRCV000292336 RCV000985201 RCV002500971
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro)	SNV Germline	Chr15:89321007	Pathogenic/Likely pathogenic	POLG-Related Spectrum Disorders Condition: not provided Progressive sclerosing poliodystrophy Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Tip-toe gait POLG-related disorder Mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b	Criteria Provided Multiple Submitters No Conflicts	CA7724353	rs_139590686	15 SubmittersRCV000306622 RCV000321917 RCV000633543 RCV001004600 RCV001848045 RCV003985765 RCV004786646 RCV005003601
NM_002693.3(POLG):c.1850G>A (p.Arg617His)	SNV Germline	Chr15:89325549	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7724675	rs_779961986	7 SubmittersRCV000725018 RCV000758555 RCV002519104
NM_002693.3(POLG):c.2019C>T (p.Ala673=)	SNV Germline	Chr15:89324158	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy POLG-related disorder	Criteria Provided Conflicting Classifications	CA7724619	rs_557179508	4 SubmittersRCV000311062 RCV000758366 RCV003985767
NM_002693.3(POLG):c.2487C>T (p.Pro829=)	SNV Germline	Chr15:89321847	Conflicting classifications of pathogenicity	not specified Condition: not provided Progressive sclerosing poliodystrophy POLG-related disorder	Criteria Provided Conflicting Classifications	CA7724444	rs_147563527	5 SubmittersRCV000291085 RCV000726206 RCV001087373 RCV003985768
NM_002693.3(POLG):c.501G>A (p.Pro167=)	SNV Germline	Chr15:89333254	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA10606974	rs_886044612	2 SubmittersRCV000362221 RCV002061144
NM_002693.3(POLG):c.1269T>A (p.Thr423=)	SNV Germline	Chr15:89327331	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA10607040	rs_886044670	2 SubmittersRCV000282461 RCV002061145
NM_002693.3(POLG):c.2157+15G>A	SNV Germline	Chr15:89323800	Conflicting classifications of pathogenicity	POLG-Related Spectrum Disorders not specified Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA7724574	rs_766521182	4 SubmittersRCV000259254 RCV000431288 RCV000758515
NM_002693.3(POLG):c.1905G>A (p.Pro635=)	SNV Germline	Chr15:89325494	Conflicting classifications of pathogenicity	Condition: not provided POLG-Related Spectrum Disorders not specified POLG-related disorder Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA7724665	rs_550592814	6 SubmittersRCV000732052 RCV000377537 RCV000429004 RCV003985774 RCV001482698
NM_002693.3(POLG):c.1171-11C>T	SNV Germline	Chr15:89328546	Conflicting classifications of pathogenicity	POLG-Related Spectrum Disorders Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA10636645	rs_886051525	2 SubmittersRCV000312692 RCV003626613
NM_002693.3(POLG):c.2266-11G>C	SNV Germline	Chr15:89322913	Conflicting classifications of pathogenicity	POLG-Related Spectrum Disorders Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA7724509	rs_747154432	2 SubmittersRCV000367320 RCV002056472
NM_002693.3(POLG):c.3549C>T (p.Val1183=)	SNV Germline	Chr15:89317470	Conflicting classifications of pathogenicity	POLG-Related Spectrum Disorders Progressive sclerosing poliodystrophy Condition: not provided POLG-related disorder	Criteria Provided Conflicting Classifications	CA7724100	rs_777231247	4 SubmittersRCV000296446 RCV000535127 RCV001697753 RCV003985772
NM_002693.3(POLG):c.3273+6T>A	SNV Germline	Chr15:89318925	Conflicting classifications of pathogenicity	POLG-Related Spectrum Disorders Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA10602323	rs_886051522	3 SubmittersRCV000281171 RCV000460872
NM_002693.3(POLG):c.2481-10A>C	SNV Germline	Chr15:89321863	Conflicting classifications of pathogenicity	POLG-Related Spectrum Disorders Progressive sclerosing poliodystrophy Condition: not provided POLG-related disorder not specified	Criteria Provided Conflicting Classifications	CA7724448	rs_555280530	8 SubmittersRCV000395822 RCV000468935 RCV000734135 RCV003985773 RCV004586682
NM_002693.3(POLG):c.1887C>T (p.Asp629=)	SNV Germline	Chr15:89325512	Conflicting classifications of pathogenicity	POLG-Related Spectrum Disorders Progressive sclerosing poliodystrophy not specified	Criteria Provided Conflicting Classifications	CA10602207	rs_886051524	4 SubmittersRCV000344383 RCV000758359 RCV000602628
NM_002693.3(POLG):c.-80C>T	SNV Germline	Chr15:89333834	Conflicting classifications of pathogenicity	POLG-Related Spectrum Disorders Progressive sclerosing poliodystrophy Condition: not provided Inborn genetic diseases POLG-related disorder	Criteria Provided Conflicting Classifications	CA10647470	rs_3087378	6 SubmittersRCV000358599 RCV001082745 RCV000735028 RCV002522809 RCV003985775
NM_002693.3(POLG):c.1763G>A (p.Gly588Asp)	SNV Germline	Chr15:89325636	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy not specified	Criteria Provided Conflicting Classifications	CA10602201	rs_371334941	5 SubmittersRCV000413337 RCV000557537 RCV001805034
NM_002693.3(POLG):c.823C>T (p.Arg275Ter)	SNV Germline	Chr15:89330113	Pathogenic	Condition: not provided Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16042905	rs_1057517803	4 SubmittersRCV000414708 RCV001865283 RCV005431647
NM_002693.3(POLG):c.3483-2A>G	SNV Germline	Chr15:89317538	Pathogenic/Likely pathogenic	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10602278	rs_1057518035	3 SubmittersRCV000414416 RCV000758490
NM_002693.3(POLG):c.2897T>G (p.Leu966Arg)	SNV Germline	Chr15:89320850	Pathogenic/Likely pathogenic	Condition: not provided Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b POLG-Related Spectrum Disorders	Criteria Provided Multiple Submitters No Conflicts	CA7724330	rs_142347031	8 SubmittersRCV000413284 RCV000821077 RCV005010308 RCV004800399
NM_002693.3(POLG):c.409C>T (p.Gln137Ter)	SNV Germline	Chr15:89333346	Pathogenic/Likely pathogenic	Condition: not provided Inborn genetic diseases Progressive sclerosing poliodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA16042970	rs_1057517891	3 SubmittersRCV000414240 RCV002318366 RCV003626616
NM_002693.3(POLG):c.3542G>A (p.Ser1181Asn)	SNV Germline	Chr15:89317477	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome	Criteria Provided Conflicting Classifications	CA7724101	rs_149921636	6 SubmittersRCV000416245 RCV000633559 RCV005429241
NM_002693.3(POLG):c.3480C>T (p.Thr1160=)	SNV Germline	Chr15:89318543	Conflicting classifications of pathogenicity	not specified Condition: not provided Progressive sclerosing poliodystrophy POLG-related disorder	Criteria Provided Conflicting Classifications	CA16606827	rs_1057521589	4 SubmittersRCV000438460 RCV000733253 RCV002525359 RCV004732875
NM_002693.3(POLG):c.1356T>C (p.Tyr452=)	SNV Germline	Chr15:89327244	Conflicting classifications of pathogenicity	Condition: not provided POLG-Related Spectrum Disorders Progressive sclerosing poliodystrophy POLG-related disorder	Criteria Provided Conflicting Classifications	CA7724873	rs_3176179	7 SubmittersRCV000734331 RCV001117973 RCV001089119 RCV003985783
NM_002693.3(POLG):c.2880C>T (p.Pro960=)	SNV Germline	Chr15:89320867	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Condition: not provided Hereditary spastic paraplegia POLG-related disorder	Criteria Provided Conflicting Classifications	CA7724332	rs_752500492	6 SubmittersRCV000549125 RCV000727181 RCV001848746 RCV003985778
NM_002693.3(POLG):c.2598+15T>G	SNV Germline	Chr15:89321721	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA16607061	rs_1057520997	2 SubmittersRCV000418954 RCV002519519
NM_002693.3(POLG):c.1949+3A>G	SNV Germline	Chr15:89325447	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA16607067	rs_1057523710	2 SubmittersRCV000698969 RCV001698296
NM_002693.3(POLG):c.1789C>T (p.Arg597Trp)	SNV Germline	Chr15:89325610	Pathogenic/Likely pathogenic	Condition: not provided Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Inborn genetic diseases Mitochondrial DNA depletion syndrome 4b Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA7724686	rs_139717885	8 SubmittersRCV000438492 RCV000758261 RCV003147454 RCV004022346 RCV005010323
NM_002693.3(POLG):c.2125C>T (p.Arg709Ter)	SNV Germline	Chr15:89323847	Pathogenic	Condition: not provided Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10602217	rs_867038717	4 SubmittersRCV000431312 RCV005004154 RCV000758415
NM_002693.3(POLG):c.1389G>A (p.Leu463=)	SNV Germline	Chr15:89327211	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7724866	rs_150828914	5 SubmittersRCV000726849 RCV001088782 RCV002318460
NM_002693.3(POLG):c.926G>A (p.Arg309His)	SNV Germline	Chr15:89329040	Pathogenic	Condition: not provided Progressive sclerosing poliodystrophy Tip-toe gait	Criteria Provided Multiple Submitters No Conflicts	CA7724998	rs_780953863	9 SubmittersRCV000421279 RCV001861504 RCV003319987
NM_002693.3(POLG):c.3444C>T (p.Arg1148=)	SNV Germline	Chr15:89318579	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy POLG-related disorder	Criteria Provided Conflicting Classifications	CA7724140	rs_374937961	6 SubmittersRCV000712802 RCV001089379 RCV003985779
NM_002693.3(POLG):c.3285C>G (p.Ser1095Arg)	SNV Germline	Chr15:89318738	Pathogenic/Likely pathogenic	Condition: not provided POLG-related disorder Progressive sclerosing poliodystrophy POLG-Related Spectrum Disorders	Criteria Provided Multiple Submitters No Conflicts	CA7724170	rs_761649878	6 SubmittersRCV000441353 RCV000709798 RCV000758419 RCV003492040
NM_002693.3(POLG):c.2982-3C>T	SNV Germline	Chr15:89319353	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA7724285	rs_538731397	2 SubmittersRCV000426083 RCV000525150
NM_002693.3(POLG):c.2149C>T (p.Leu717=)	SNV Germline	Chr15:89323823	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Condition: not provided Inborn genetic diseases POLG-related disorder	Criteria Provided Conflicting Classifications	CA7724582	rs_779515404	6 SubmittersRCV000553320 RCV000731157 RCV002429363 RCV003985777
NM_002693.3(POLG):c.2121C>A (p.Asn707Lys)	SNV Germline	Chr15:89323851	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA7724584	rs_755502359	4 SubmittersRCV000995415 RCV000758297
NM_002693.3(POLG):c.1905G>T (p.Pro635=)	SNV Germline	Chr15:89325494	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy Condition: not provided POLG-related disorder	Criteria Provided Conflicting Classifications	CA10602209	rs_550592814	6 SubmittersRCV000430127 RCV000758360 RCV000712789 RCV003985776
NM_002693.3(POLG):c.1629C>T (p.Val543=)	SNV Germline	Chr15:89326695	Conflicting classifications of pathogenicity	not specified POLG-Related Spectrum Disorders Progressive sclerosing poliodystrophy POLG-related disorder	Criteria Provided Conflicting Classifications	CA7724742	rs_56349446	4 SubmittersRCV000442913 RCV001116520 RCV001410765 RCV004732871
NM_002693.3(POLG):c.1588C>T (p.Leu530Phe)	SNV Germline	Chr15:89326736	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA16607913	rs_1024469208	2 SubmittersRCV000436160 RCV003626620
NM_002693.3(POLG):c.381G>T (p.Leu127=)	SNV Germline	Chr15:89333374	Conflicting classifications of pathogenicity	not specified Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA16607929	rs_1057524724	3 SubmittersRCV000430052 RCV001532267 RCV002522712
NM_002693.3(POLG):c.264C>G (p.Phe88Leu)	SNV Germline	Chr15:89333491	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy POLG-Related Spectrum Disorders	Criteria Provided Conflicting Classifications	CA7725145	rs_144439703	6 SubmittersRCV000431950 RCV000693072 RCV004701468
NM_002693.3(POLG):c.186A>G (p.Leu62=)	SNV Germline	Chr15:89333569	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy POLG-related disorder	Criteria Provided Conflicting Classifications	CA7725165	rs_745310138	5 SubmittersRCV000726830 RCV000758358 RCV004732878
NM_002693.3(POLG):c.3519G>A (p.Leu1173=)	SNV Germline	Chr15:89317500	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy not specified POLG-related disorder	Criteria Provided Conflicting Classifications	CA10602279	rs_953889846	4 SubmittersRCV000465233 RCV000516266 RCV003985790
NM_002693.3(POLG):c.3104+2T>A	SNV Germline	Chr15:89319226	Likely pathogenic	Condition: not provided Progressive sclerosing poliodystrophy 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA7724257	rs_747632869	5 SubmittersRCV000483183 RCV003464028 RCV002481523
NM_002693.3(POLG):c.1874C>T (p.Pro625Leu)	SNV Germline	Chr15:89325525	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA10602206	rs_1064794214	3 SubmittersRCV000478890 RCV000758441
NM_002693.3(POLG):c.3550G>A (p.Asp1184Asn)	SNV Germline	Chr15:89317469	Pathogenic	Progressive sclerosing poliodystrophy Condition: not provided Mitochondrial disease Inborn genetic diseases POLG-related disorder Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b	Reviewed By Expert Panel	CA393747667	rs_1131691575	8 SubmittersRCV000814983 RCV000493626 RCV000508838 RCV002527019 RCV004732901 RCV005010403
NM_002693.3(POLG):c.3573G>T (p.Lys1191Asn)	SNV Germline	Chr15:89317446	Likely pathogenic	Condition: not provided Progressive sclerosing poliodystrophy POLG-related disorder Mitochondrial disease	Reviewed By Expert Panel	CA10602282	rs_1085307741	8 SubmittersRCV000489004 RCV000758421 RCV003985792 RCV001526408
NM_002693.3(POLG):c.1543A>G (p.Ile515Val)	SNV Germline	Chr15:89326954	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy POLG-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA274556112	rs_748919988	5 SubmittersRCV000490068 RCV001302676 RCV004732902 RCV005462993
NM_002693.3(POLG):c.3527C>T (p.Ser1176Leu)	SNV Germline	Chr15:89317492	Conflicting classifications of pathogenicity	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 POLG-Related Spectrum Disorders Condition: not provided Progressive sclerosing poliodystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7724103	rs_776031396	7 SubmittersRCV004760533 RCV001375606 RCV000493365 RCV000686358 RCV002524050
NM_002693.3(POLG):c.2799T>G (p.Ser933Arg)	SNV Germline	Chr15:89320948	Likely pathogenic	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA7724346	rs_765916932	4 SubmittersRCV000497987 RCV000758459
NM_002693.3(POLG):c.2584G>A (p.Ala862Thr)	SNV Germline	Chr15:89321750	Pathogenic/Likely pathogenic	Condition: not provided Progressive sclerosing poliodystrophy MELAS syndrome POLG-Related Spectrum Disorders	Criteria Provided Multiple Submitters No Conflicts	CA7724420	rs_778429780	6 SubmittersRCV000497335 RCV000758455 RCV003232989 RCV003330728
NM_002693.3(POLG):c.2869G>C (p.Ala957Pro)	SNV Germline	Chr15:89320878	Pathogenic/Likely pathogenic	Condition: not provided Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA393752678	rs_121918051	6 SubmittersRCV000501672 RCV002524270 RCV005010436
NM_002693.3(POLG):c.2606G>A (p.Arg869Gln)	SNV Germline	Chr15:89321253	Pathogenic/Likely pathogenic	not specified Progressive sclerosing poliodystrophy Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	Criteria Provided Multiple Submitters No Conflicts	CA10602235	rs_1356604153	6 SubmittersRCV000503882 RCV000758310 RCV005004195
NM_002693.3(POLG):c.1880G>A (p.Arg627Gln)	SNV Germline	Chr15:89325519	Pathogenic/Likely pathogenic	Condition: not provided Progressive sclerosing poliodystrophy POLG-related disorder POLG-Related Spectrum Disorders	Criteria Provided Multiple Submitters No Conflicts	CA7724669	rs_375305567	12 SubmittersRCV000503435 RCV000660508 RCV003985793 RCV005418172
NM_002693.3(POLG):c.1761G>A (p.Pro587=)	SNV Germline	Chr15:89325638	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA7724692	rs_374805003	4 SubmittersRCV000500619 RCV000758356 RCV003133285
NM_002693.3(POLG):c.2605C>T (p.Arg869Ter)	SNV Germline	Chr15:89321254	Pathogenic/Likely pathogenic	Progressive sclerosing poliodystrophy Condition: not provided Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Mitochondrial DNA depletion syndrome 4b Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	Criteria Provided Multiple Submitters No Conflicts	CA7724393	rs_751376824	5 SubmittersRCV001226304 RCV000513535 RCV005010461
NM_002693.3(POLG):c.3582C>T (p.Thr1194=)	SNV Germline	Chr15:89317437	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA492070597	rs_1555452247	2 SubmittersRCV000518106 RCV002527512
NM_002693.3(POLG):c.3498C>T (p.Tyr1166=)	SNV Germline	Chr15:89317521	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA492070832	rs_1427798436	2 SubmittersRCV000517863 RCV002060254
NM_002693.3(POLG):c.2665G>A (p.Ala889Thr)	SNV Germline	Chr15:89321194	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy POLG-related disorder Inborn genetic diseases Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Mitochondrial DNA depletion syndrome	Criteria Provided Conflicting Classifications	CA7724385	rs_763393580	9 SubmittersRCV000518474 RCV000695266 RCV000844909 RCV002438244 RCV005010475 RCV005431726
NM_002693.3(POLG):c.2027C>T (p.Ala676Val)	SNV Germline	Chr15:89324150	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Condition: not provided 6 conditions Inborn genetic diseases Limb-girdle muscular dystrophy	Criteria Provided Conflicting Classifications	CA7724615	rs_376306906	8 SubmittersRCV000552401 RCV000733276 RCV000763992 RCV002420318 RCV005621963
NM_002693.3(POLG):c.3667A>G (p.Ile1223Val)	SNV Germline	Chr15:89316804	Conflicting classifications of pathogenicity	6 conditions Progressive sclerosing poliodystrophy Hereditary spastic paraplegia not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7724040	rs_148786642	8 SubmittersRCV000765232 RCV000548544 RCV001848933 RCV003479152 RCV001591204 RCV004659089
NM_002693.3(POLG):c.1872G>A (p.Val624=)	SNV Germline	Chr15:89325527	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy not specified Hereditary spastic paraplegia	Criteria Provided Conflicting Classifications	CA492289266	rs_765506021	3 SubmittersRCV000545151 RCV000609746 RCV001848932
NM_002693.3(POLG):c.1735C>T (p.Arg579Trp)	SNV Germline	Chr15:89325664	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Condition: not provided Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	Criteria Provided Conflicting Classifications	CA7724698	rs_556925652	6 SubmittersRCV000544202 RCV001584248 RCV005004219
NM_002693.3(POLG):c.330C>T (p.His110=)	SNV Germline	Chr15:89333425	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Condition: not provided POLG-related disorder	Criteria Provided Conflicting Classifications	CA274566083	rs_376266682	3 SubmittersRCV000540376 RCV000591767 RCV003985797
NM_002693.3(POLG):c.3242G>A (p.Arg1081Gln)	SNV Germline	Chr15:89318962	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7724198	rs_140079523	7 SubmittersRCV000539421 RCV000995412 RCV002448638
NM_002693.3(POLG):c.1276G>A (p.Gly426Ser)	SNV Germline	Chr15:89327324	Pathogenic/Likely pathogenic	Progressive sclerosing poliodystrophy 6 conditions Mitochondrial DNA depletion syndrome Condition: not provided POLG-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA7724884	rs_775576189	7 SubmittersRCV000534104 RCV000763997 RCV005239152 RCV001546202 RCV004732930
NM_002693.3(POLG):c.2293C>A (p.Pro765Thr)	SNV Germline	Chr15:89322875	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA10602222	rs_1003442806	3 SubmittersRCV000530237
NM_002693.3(POLG):c.3640C>T (p.Gln1214Ter)	SNV Germline	Chr15:89317379	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA7724076	rs_781256643	6 SubmittersRCV000579250 RCV000758431
NM_002693.3(POLG):c.922C>T (p.Gln308Ter)	SNV Germline	Chr15:89329044	Pathogenic/Likely pathogenic	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA393765780	rs_1555453824	2 SubmittersRCV000579146 RCV002529053
NM_002693.3(POLG):c.137A>G (p.Gln46Arg)	SNV Germline	Chr15:89333618	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA10602190	rs_1555454339	4 SubmittersRCV000596845 RCV000758405
NM_002693.3(POLG):c.1983C>T (p.Leu661=)	SNV Germline	Chr15:89324194	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA274550645	rs_948431638	2 SubmittersRCV000593316 RCV001445211
NM_002693.3(POLG):c.2599-10C>T	SNV Germline	Chr15:89321270	Conflicting classifications of pathogenicity	not specified Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA7724397	rs_769346219	3 SubmittersRCV000593139 RCV000726881 RCV001442687
NM_002693.3(POLG):c.2158-10G>A	SNV Germline	Chr15:89323521	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA658798426	rs_1555453090	2 SubmittersRCV000595109 RCV003626628
NM_002693.3(POLG):c.1950-10C>T	SNV Germline	Chr15:89324237	Conflicting classifications of pathogenicity	not specified Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA7724637	rs_749522324	4 SubmittersRCV000592919 RCV000727031 RCV003626629
NM_002693.3(POLG):c.1648C>G (p.Gln550Glu)	SNV Germline	Chr15:89326676	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10602199	rs_1227630175	4 SubmittersRCV000594852 RCV000758290 RCV005260235
NM_002693.3(POLG):c.522C>G (p.Gly174=)	SNV Germline	Chr15:89333233	Conflicting classifications of pathogenicity	Condition: not provided Hereditary spastic paraplegia Inborn genetic diseases Progressive sclerosing poliodystrophy POLG-related disorder	Criteria Provided Conflicting Classifications	CA7725103	rs_766842881	5 SubmittersRCV000598054 RCV001848983 RCV002341525 RCV002532480 RCV003985799
NM_002693.3(POLG):c.180A>G (p.Gln60=)	SNV Germline	Chr15:89333575	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA492290117	rs_1555454318	2 SubmittersRCV000593861 RCV003626630
NM_002693.3(POLG):c.2994G>T (p.Ser998=)	SNV Germline	Chr15:89319338	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy POLG-related disorder	Criteria Provided Conflicting Classifications	CA492072461	rs_567030498	3 SubmittersRCV000598074 RCV003626631 RCV004732959
NM_002693.3(POLG):c.1368G>A (p.Gln456=)	SNV Germline	Chr15:89327232	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA492289697	rs_1555453664	2 SubmittersRCV000595864 RCV001441860
NM_002693.3(POLG):c.2808C>G (p.Ala936=)	SNV Germline	Chr15:89320939	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA492289048	rs_1370721886	2 SubmittersRCV000593313 RCV001474476
NM_002693.3(POLG):c.1545C>T (p.Ile515=)	SNV Germline	Chr15:89326952	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy POLG-related disorder	Criteria Provided Conflicting Classifications	CA7724813	rs_537156830	4 SubmittersRCV000727419 RCV001860211 RCV003985800
NM_002693.3(POLG):c.2264A>C (p.Lys755Thr)	SNV Germline	Chr15:89323405	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA7724536	rs_770438363	3 SubmittersRCV000598297 RCV000758303
NM_002693.3(POLG):c.1782G>A (p.Leu594=)	SNV Germline	Chr15:89325617	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA492289469	rs_1419141450	2 SubmittersRCV000598428 RCV005091574
NM_002693.3(POLG):c.3273+5C>T	SNV Germline	Chr15:89318926	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA658798419	rs_1555452510	2 SubmittersRCV000607400 RCV005091621
NM_002693.3(POLG):c.3222G>T (p.Val1074=)	SNV Germline	Chr15:89318982	Conflicting classifications of pathogenicity	not specified Condition: not provided Progressive sclerosing poliodystrophy POLG-related disorder	Criteria Provided Conflicting Classifications	CA7724205	rs_746773616	6 SubmittersRCV000600336 RCV000734817 RCV000758533 RCV003985803
NM_002693.3(POLG):c.2265+6T>A	SNV Germline	Chr15:89323398	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA7724535	rs_746650160	2 SubmittersRCV001697862 RCV002531542
NM_002693.3(POLG):c.3274-4C>T	SNV Germline	Chr15:89318753	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7724173	rs_760343963	3 SubmittersRCV000603463 RCV000861872 RCV002317370
NM_002693.3(POLG):c.659+6T>C	SNV Germline	Chr15:89333090	Conflicting classifications of pathogenicity	not specified Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA658798418	rs_1429417228	2 SubmittersRCV000611606 RCV001860268
NM_002693.3(POLG):c.3317T>C (p.Val1106Ala)	SNV Germline	Chr15:89318706	Likely pathogenic	Inborn genetic diseases 6 conditions Mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome	Criteria Provided Multiple Submitters No Conflicts	CA393750042	rs_1354582663	5 SubmittersRCV000623937 RCV000765236 RCV004546534 RCV003626635 RCV005004274 RCV004689813
NM_002693.3(POLG):c.1A>G (p.Met1Val)	SNV Germline	Chr15:89333754	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA274566852	rs_201786897	4 SubmittersRCV000633552 RCV004791647
NM_002693.3(POLG):c.3412C>T (p.Arg1138Cys)	SNV Germline	Chr15:89318611	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy not specified	Criteria Provided Conflicting Classifications	CA7724146	rs_767138032	5 SubmittersRCV000676318 RCV000758475 RCV002282324
NM_022336.4(EDAR):c.265C>T (p.Arg89Cys)	SNV Germline	Chr2:108929289	Pathogenic	Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	Criteria Provided Single Submitter	CA1825141	rs_780424781	2 SubmittersRCV000681479 RCV002531420
NM_002693.3(POLG):c.3151G>A (p.Gly1051Arg)	SNV Germline	Chr15:89319053	Pathogenic/Likely pathogenic	Progressive sclerosing poliodystrophy Inborn genetic diseases Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA7724222	rs_121918049	6 SubmittersRCV000685758 RCV003352982 RCV005010677 RCV005409716
NM_002693.3(POLG):c.1790G>A (p.Arg597Gln)	SNV Germline	Chr15:89325609	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA10602204	rs_1001570418	6 SubmittersRCV000699074 RCV001546774 RCV003230576
NM_002693.3(POLG):c.3523C>T (p.Gln1175Ter)	SNV Germline	Chr15:89317496	Likely pathogenic	Progressive sclerosing poliodystrophy Mitochondrial disease	Reviewed By Expert Panel	CA393747895	rs_1567184117	2 SubmittersRCV000686623 RCV001756159
NM_002693.3(POLG):c.2539G>A (p.Ala847Thr)	SNV Germline	Chr15:89321795	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy not specified	Criteria Provided Conflicting Classifications	CA393754454	rs_750203541	3 SubmittersRCV000712794 RCV003514401 RCV005240505
NM_002693.3(POLG):c.2287G>C (p.Gly763Arg)	SNV Germline	Chr15:89322881	Conflicting classifications of pathogenicity	Condition: not provided POLG-Related Spectrum Disorders Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA393756558	rs_1567187837	4 SubmittersRCV000712793 RCV001796195 RCV001861978
NM_002693.3(POLG):c.453G>A (p.Leu151=)	SNV Germline	Chr15:89333302	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA7725110	rs_779981823	2 SubmittersRCV000712809 RCV001050958
NM_002693.3(POLG):c.3104+3A>T	SNV Germline	Chr15:89319225	Pathogenic	Progressive sclerosing poliodystrophy Inborn genetic diseases Condition: not provided Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	Criteria Provided Multiple Submitters No Conflicts	CA7724256	rs_778573169	8 SubmittersRCV000758418 RCV002312352 RCV003151809 RCV005010726 RCV004783847
NM_002693.3(POLG):c.3383G>A (p.Arg1128His)	SNV Germline	Chr15:89318640	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy not specified Mitochondrial DNA depletion syndrome 4b	Criteria Provided Conflicting Classifications	CA10602271	rs_1405268319	9 SubmittersRCV000728455 RCV000758473 RCV003323703 RCV003992378
NM_002693.3(POLG):c.1626T>C (p.Asp542=)	SNV Germline	Chr15:89326698	Conflicting classifications of pathogenicity	Condition: not provided POLG-Related Spectrum Disorders Progressive sclerosing poliodystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA274555684	rs_376576519	4 SubmittersRCV000728733 RCV001116521 RCV001476795 RCV002397503
NM_002693.3(POLG):c.237C>G (p.Leu79=)	SNV Germline	Chr15:89333518	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy POLG-related disorder	Criteria Provided Conflicting Classifications	CA7725154	rs_774537232	3 SubmittersRCV000728944 RCV003768186 RCV004723141
NM_002693.3(POLG):c.1842C>T (p.Tyr614=)	SNV Germline	Chr15:89325557	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy POLG-related disorder	Criteria Provided Conflicting Classifications	CA274554413	rs_62640033	5 SubmittersRCV000729059 RCV001502376 RCV003985810
NM_002693.3(POLG):c.33C>T (p.Gly11=)	SNV Germline	Chr15:89333722	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy POLG-related disorder	Criteria Provided Conflicting Classifications	CA492290718	rs_1482684558	3 SubmittersRCV000729180 RCV000799230 RCV003985811
NM_002693.3(POLG):c.1251G>A (p.Arg417=)	SNV Germline	Chr15:89327349	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA10602185	rs_1567191509	3 SubmittersRCV000729608 RCV000758352
NM_002693.3(POLG):c.2209G>A (p.Gly737Arg)	SNV Germline	Chr15:89323460	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	Criteria Provided Conflicting Classifications	CA7724543	rs_121918054	2 SubmittersRCV000729789 RCV005004391
NM_002693.3(POLG):c.2865T>C (p.Tyr955=)	SNV Germline	Chr15:89320882	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA492288979	rs_1567186574	2 SubmittersRCV000730202 RCV003106041
NM_002693.3(POLG):c.2878C>T (p.Pro960Ser)	SNV Germline	Chr15:89320869	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy POLG-related disorder	Criteria Provided Conflicting Classifications	CA7724333	rs_373298169	5 SubmittersRCV000730224 RCV001034291 RCV003985813
NM_002693.3(POLG):c.1977C>T (p.His659=)	SNV Germline	Chr15:89324200	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy POLG-related disorder	Criteria Provided Conflicting Classifications	CA7724627	rs_62640030	4 SubmittersRCV000730709 RCV001455893 RCV003985814
NM_002693.3(POLG):c.2133A>G (p.Ala711=)	SNV Germline	Chr15:89323839	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA492289351	rs_1567188446	2 SubmittersRCV000730753 RCV002535169
NM_002693.3(POLG):c.1024-1G>C	SNV Germline	Chr15:89328832	Pathogenic/Likely pathogenic	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA393765308	rs_1567192203	2 SubmittersRCV000731007 RCV003461008
NM_002693.3(POLG):c.468G>A (p.Leu156=)	SNV Germline	Chr15:89333287	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA492289952	rs_1567194019	2 SubmittersRCV000731067 RCV002535187
NM_002693.3(POLG):c.3630C>T (p.Tyr1210=)	SNV Germline	Chr15:89317389	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7724082	rs_139562274	4 SubmittersRCV000732440 RCV001490953 RCV002458346
NM_002693.3(POLG):c.3468C>T (p.Thr1156=)	SNV Germline	Chr15:89318555	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA7724137	rs_566373471	2 SubmittersRCV000732818 RCV001501052
NM_002693.3(POLG):c.3258G>A (p.Ser1086=)	SNV Germline	Chr15:89318946	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA7724195	rs_763312940	4 SubmittersRCV000732872 RCV000758535
NM_002693.3(POLG):c.1164C>T (p.Asn388=)	SNV Germline	Chr15:89328691	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA7724944	rs_376649412	2 SubmittersRCV000732894 RCV002536489
NM_002693.3(POLG):c.1929T>C (p.Ala643=)	SNV Germline	Chr15:89325470	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA7724661	rs_745800212	3 SubmittersRCV000732926 RCV001421051
NM_002693.3(POLG):c.129G>A (p.Gln43=)	SNV Germline	Chr15:89333626	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy POLG-related disorder	Criteria Provided Conflicting Classifications	CA7725199	rs_570989155	4 SubmittersRCV000733088 RCV001398848 RCV003985815
NM_002693.3(POLG):c.3024G>A (p.Leu1008=)	SNV Germline	Chr15:89319308	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA7724267	rs_139488968	2 SubmittersRCV000733358 RCV001455433
NM_002693.3(POLG):c.3643+2T>C	SNV Germline	Chr15:89317374	Pathogenic	Progressive sclerosing poliodystrophy Condition: not provided 6 conditions Mitochondrial disease	Reviewed By Expert Panel	CA393747166	rs_1335880349	4 SubmittersRCV001037377 RCV000734043 RCV002507306 RCV001526407
NM_002693.3(POLG):c.3012G>T (p.Leu1004=)	SNV Germline	Chr15:89319320	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA7724273	rs_989355152	2 SubmittersRCV000734085 RCV002535364
NM_002693.3(POLG):c.423C>T (p.Leu141=)	SNV Germline	Chr15:89333332	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA7725114	rs_761417163	3 SubmittersRCV000734091 RCV002332534 RCV003768241
NM_002693.3(POLG):c.160C>T (p.Gln54Ter)	SNV Germline	Chr15:89333595	Pathogenic/Likely pathogenic	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA7725179	rs_774768199	3 SubmittersRCV000735156 RCV003461011
NM_002693.3(POLG):c.3614G>C (p.Gly1205Ala)	SNV Germline	Chr15:89317405	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy POLG-related disorder	Criteria Provided Conflicting Classifications	CA7724084	rs_772737979	3 SubmittersRCV000758335 RCV003985818
NM_002693.3(POLG):c.3562T>C (p.Cys1188Arg)	SNV Germline	Chr15:89317457	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA10602280	rs_754844175	1 SubmittersRCV000758330
NM_002693.3(POLG):c.3526T>C (p.Ser1176Pro)	SNV Germline	Chr15:89317493	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA7724104	rs_763205408	3 SubmittersRCV000758329 RCV005422953
NM_002693.3(POLG):c.3472C>A (p.Leu1158Ile)	SNV Germline	Chr15:89318551	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA10602277	rs_1278715599	2 SubmittersRCV000758479
NM_002693.3(POLG):c.3338T>C (p.Leu1113Pro)	SNV Germline	Chr15:89318685	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA10602269	rs_1567185178	1 SubmittersRCV000758472
NM_002693.3(POLG):c.3242G>C (p.Arg1081Pro)	SNV Germline	Chr15:89318962	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA10602264	rs_140079523	1 SubmittersRCV000758466
NM_002693.3(POLG):c.3241C>T (p.Arg1081Ter)	SNV Germline	Chr15:89318963	Pathogenic	Progressive sclerosing poliodystrophy Mitochondrial disease Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA7724199	rs_767708989	4 SubmittersRCV000758278 RCV004788155 RCV004797867
NM_002693.3(POLG):c.3229T>G (p.Cys1077Gly)	SNV Germline	Chr15:89318975	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy POLG-Related Spectrum Disorders	Criteria Provided Conflicting Classifications	CA10602262	rs_1567185468	3 SubmittersRCV000758324 RCV001121334
NM_002693.3(POLG):c.3067C>T (p.Gln1023Ter)	SNV Germline	Chr15:89319265	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA10602254	rs_1567185770	1 SubmittersRCV000758275
NM_002693.3(POLG):c.2858G>A (p.Arg953His)	SNV Germline	Chr15:89320889	Likely pathogenic	Progressive sclerosing poliodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10602247	rs_1567186581	4 SubmittersRCV000758462 RCV005051824
NM_002693.3(POLG):c.2854G>A (p.Gly952Ser)	SNV Germline	Chr15:89320893	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA10602246	rs_531744363	2 SubmittersRCV000758461
NM_002693.3(POLG):c.2851T>A (p.Tyr951Asn)	SNV Germline	Chr15:89320896	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA10602245	rs_1567186591	1 SubmittersRCV000758460
NM_002693.3(POLG):c.2828G>A (p.Arg943His)	SNV Germline	Chr15:89320919	Pathogenic	Progressive sclerosing poliodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10602243	rs_1567186613	5 SubmittersRCV000758265 RCV000992686
NM_002693.3(POLG):c.2827C>T (p.Arg943Cys)	SNV Germline	Chr15:89320920	Pathogenic/Likely pathogenic	Progressive sclerosing poliodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10602242	rs_1567186614	3 SubmittersRCV000758264 RCV001546612
NM_002693.3(POLG):c.2698G>A (p.Ala900Thr)	SNV Germline	Chr15:89321161	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA10602240	rs_935602068	1 SubmittersRCV000758457
NM_002693.3(POLG):c.2662G>A (p.Gly888Ser)	SNV Germline	Chr15:89321197	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA10602237	rs_1567186787	1 SubmittersRCV000758316
NM_002693.3(POLG):c.2657T>C (p.Leu886Pro)	SNV Germline	Chr15:89321202	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA7724386	rs_769210629	2 SubmittersRCV000758315
NM_002693.3(POLG):c.2589C>G (p.Ser863Arg)	SNV Germline	Chr15:89321745	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA10602234	rs_1567187057	1 SubmittersRCV000758309
NM_002693.3(POLG):c.2573C>T (p.Thr858Ile)	SNV Germline	Chr15:89321761	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Condition: not provided not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7724424	rs_759128787	5 SubmittersRCV000758454 RCV001536256 RCV004768628 RCV002424756
NM_002693.3(POLG):c.2564T>C (p.Val855Ala)	SNV Germline	Chr15:89321770	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA10602233	rs_963553787	4 SubmittersRCV000758453 RCV003225118 RCV005431914
NM_002693.3(POLG):c.2563G>T (p.Val855Leu)	SNV Germline	Chr15:89321771	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA7724425	rs_771254207	4 SubmittersRCV000758452 RCV000995414 RCV005240536
NM_002693.3(POLG):c.2555G>A (p.Arg852His)	SNV Germline	Chr15:89321779	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10602232	rs_1567187093	2 SubmittersRCV000758450
NM_002693.3(POLG):c.2551A>G (p.Thr851Ala)	SNV Germline	Chr15:89321783	Pathogenic/Likely pathogenic	Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA7724427	rs_775445970	4 SubmittersRCV000758417 RCV004702394 RCV004997263
NM_002693.3(POLG):c.2262C>G (p.His754Gln)	SNV Germline	Chr15:89323407	Likely pathogenic	Progressive sclerosing poliodystrophy POLG-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10602220	rs_1567188178	3 SubmittersRCV000758302 RCV004723155
NM_002693.3(POLG):c.2143C>T (p.Gln715Ter)	SNV Germline	Chr15:89323829	Pathogenic	Progressive sclerosing poliodystrophy 6 conditions POLG-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10602219	rs_1254855971	5 SubmittersRCV000758425 RCV002500980 RCV004733039 RCV005235478
NM_002693.3(POLG):c.1862G>A (p.Gly621Asp)	SNV Germline	Chr15:89325537	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy not specified	Criteria Provided Conflicting Classifications	CA10602205	rs_1567190247	3 SubmittersRCV000758440 RCV005407941
NM_002693.3(POLG):c.1789C>G (p.Arg597Gly)	SNV Germline	Chr15:89325610	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10602203	rs_139717885	2 SubmittersRCV000758439
NM_002693.3(POLG):c.1721G>A (p.Arg574Gln)	SNV Germline	Chr15:89325678	Pathogenic/Likely pathogenic	Progressive sclerosing poliodystrophy POLG-related disorder Condition: not provided POLG-Related Spectrum Disorders	Criteria Provided Multiple Submitters No Conflicts	CA7724701	rs_764287987	7 SubmittersRCV000758294 RCV000791102 RCV001585689 RCV005418332
NM_002693.3(POLG):c.1418T>C (p.Leu473Pro)	SNV Germline	Chr15:89327182	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA393761544	rs_1567191334	2 SubmittersRCV000758283 RCV005463121
NM_002693.3(POLG):c.1345C>T (p.Gln449Ter)	SNV Germline	Chr15:89327255	Pathogenic	Progressive sclerosing poliodystrophy Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	Criteria Provided Multiple Submitters No Conflicts	CA10602189	rs_1567191417	4 SubmittersRCV000758273 RCV005004399
NM_002693.3(POLG):c.1289T>C (p.Met430Thr)	SNV Germline	Chr15:89327311	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA10602187	rs_1567191474	1 SubmittersRCV000758436
NM_002693.3(POLG):c.1120C>T (p.Arg374Ter)	SNV Germline	Chr15:89328735	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10602180	rs_960142425	2 SubmittersRCV000758414
NM_002693.3(POLG):c.955A>G (p.Lys319Glu)	SNV Germline	Chr15:89329011	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA7724993	rs_766465907	2 SubmittersRCV000758272
NM_002693.3(POLG):c.824G>A (p.Arg275Gln)	SNV Germline	Chr15:89330112	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	Criteria Provided Conflicting Classifications	CA10602300	rs_1555453950	4 SubmittersRCV000758488 RCV005004402
NM_002693.3(POLG):c.705G>A (p.Trp235Ter)	SNV Germline	Chr15:89330231	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA10602297	rs_1567192879	1 SubmittersRCV000758270
NM_002693.3(POLG):c.470T>C (p.Leu157Pro)	SNV Germline	Chr15:89333285	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA10602290	rs_1567194013	1 SubmittersRCV000758480
NM_002693.3(POLG):c.248T>C (p.Leu83Pro)	SNV Germline	Chr15:89333507	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA10602229	rs_1567194243	1 SubmittersRCV000758448
NM_002693.3(POLG):c.3273+8G>A	SNV Germline	Chr15:89318923	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA7724191	rs_776468044	2 SubmittersRCV000758468
NM_002693.3(POLG):c.3104+1G>A	SNV Germline	Chr15:89319227	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Condition: not provided Inborn genetic diseases 6 conditions	Criteria Provided Conflicting Classifications	CA10602255	rs_138917386	8 SubmittersRCV000758276 RCV001546677 RCV005260379 RCV002500979
NM_002693.3(POLG):c.2480+1G>A	SNV Germline	Chr15:89321961	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10602319	rs_1567187326	2 SubmittersRCV000758428
NM_002693.3(POLG):c.2426+1G>C	SNV Germline	Chr15:89322741	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA10602226	rs_1567187745	1 SubmittersRCV000758427
NM_002693.3(POLG):c.2070+1G>A	SNV Germline	Chr15:89324106	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA10602215	rs_1567188588	1 SubmittersRCV000758424
NM_002693.3(POLG):c.1713-4G>A	SNV Germline	Chr15:89325690	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA7724705	rs_201857960	2 SubmittersRCV000758293
NM_002693.3(POLG):c.2591A>T (p.Asn864Ile)	SNV Germline	Chr15:89321743	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA393754168	rs_121918050	2 SubmittersRCV000795150
NM_002693.3(POLG):c.1198G>A (p.Val400Met)	SNV Germline	Chr15:89328508	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	Criteria Provided Conflicting Classifications	CA7724919	rs_529639381	2 SubmittersRCV000812598 RCV003882733
NM_002693.3(POLG):c.660G>A (p.Trp220Ter)	SNV Germline	Chr15:89330276	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393767397	rs_1596360430	1 SubmittersRCV000803087
NM_002693.3(POLG):c.2598+2T>C	SNV Germline	Chr15:89321734	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393754116	rs_1596352762	1 SubmittersRCV000792937
NM_002693.3(POLG):c.2665G>C (p.Ala889Pro)	SNV Germline	Chr15:89321194	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393753749	rs_763393580	1 SubmittersRCV000855760
NM_002693.3(POLG):c.2310C>A (p.Phe770Leu)	SNV Germline	Chr15:89322858	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393756505	rs_755315398	1 SubmittersRCV000855756
NM_002693.3(POLG):c.75G>A (p.Trp25Ter)	SNV Germline	Chr15:89333680	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA274566757	rs_1021719232	1 SubmittersRCV000855758
NM_002693.3(POLG):c.484C>T (p.Leu162=)	SNV Germline	Chr15:89333271	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Condition: not provided Hereditary spastic paraplegia POLG-related disorder	Criteria Provided Conflicting Classifications	CA7725108	rs_375445567	4 SubmittersRCV000867916 RCV001692304 RCV001847075 RCV003985829
NM_002693.3(POLG):c.844T>G (p.Tyr282Asp)	SNV Germline	Chr15:89330092	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	Criteria Provided Conflicting Classifications	CA10602301	rs_1290567099	5 SubmittersRCV000992691 RCV000989379 RCV002468611 RCV005012416
NM_002693.3(POLG):c.730C>G (p.Leu244Val)	SNV Germline	Chr15:89330206	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy 6 conditions	Criteria Provided Conflicting Classifications	CA7725052	rs_367959489	2 SubmittersRCV001068503 RCV002480430
NM_002693.3(POLG):c.2981+2T>G	SNV Germline	Chr15:89320764	Likely pathogenic	Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	Criteria Provided Multiple Submitters No Conflicts	CA7724313	rs_775260762	3 SubmittersRCV001065150 RCV003514462
NM_002693.3(POLG):c.868C>T (p.Arg290Cys)	SNV Germline	Chr15:89329098	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Progressive sclerosing poliodystrophy Hereditary spastic paraplegia Mitochondrial DNA depletion syndrome Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b	Criteria Provided Conflicting Classifications	CA7725010	rs_753416225	8 SubmittersRCV001093440 RCV002554873 RCV002555968 RCV001847155 RCV003155359 RCV005005036
NM_002693.3(POLG):c.3151G>T (p.Gly1051Trp)	SNV Germline	Chr15:89319053	Conflicting classifications of pathogenicity	POLG-Related Spectrum Disorders 6 conditions Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA7724223	rs_121918049	5 SubmittersRCV001121336 RCV002491375 RCV001856597 RCV002466625 RCV003322852
NM_002693.3(POLG):c.2988G>A (p.Arg996=)	SNV Germline	Chr15:89319344	Conflicting classifications of pathogenicity	POLG-Related Spectrum Disorders Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA492072501	rs_2055360184	2 SubmittersRCV001116415 RCV003626669
NM_002693.3(POLG):c.2040G>A (p.Leu680=)	SNV Germline	Chr15:89324137	Conflicting classifications of pathogenicity	POLG-Related Spectrum Disorders Condition: not provided Progressive sclerosing poliodystrophy POLG-related disorder	Criteria Provided Conflicting Classifications	CA7724612	rs_367740265	4 SubmittersRCV001121413 RCV001638040 RCV001410772 RCV003985837
NM_002693.3(POLG):c.1062C>T (p.Asn354=)	SNV Germline	Chr15:89328793	Conflicting classifications of pathogenicity	POLG-Related Spectrum Disorders Progressive sclerosing poliodystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7724960	rs_778662837	3 SubmittersRCV001119514 RCV001396114 RCV002411636
NM_002693.3(POLG):c.3408G>C (p.Glu1136Asp)	SNV Germline	Chr15:89318615	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7724148	rs_755725702	4 SubmittersRCV001586050 RCV001206861 RCV004526814 RCV002561238
NM_002693.3(POLG):c.1252T>C (p.Cys418Arg)	SNV Germline	Chr15:89327348	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Neurodevelopmental delay Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	Criteria Provided Conflicting Classifications	CA7724888	rs_758112770	3 SubmittersRCV001208687 RCV002274145 RCV005012609
NM_002693.3(POLG):c.1251-2A>G	SNV Germline	Chr15:89327351	Pathogenic	Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	Criteria Provided Single Submitter	CA393762953	rs_2055536585	2 SubmittersRCV001202188 RCV004768907
NM_002693.3(POLG):c.172C>T (p.Gln58Ter)	SNV Germline	Chr15:89333583	Pathogenic/Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA393773931	rs_2055625602	2 SubmittersRCV001233059
NM_002693.3(POLG):c.3152G>A (p.Gly1051Glu)	SNV Germline	Chr15:89319052	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393750991	rs_775248939	1 SubmittersRCV001240587
NM_002693.3(POLG):c.1947C>A (p.Tyr649Ter)	SNV Germline	Chr15:89325452	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393758895	rs_1465650547	1 SubmittersRCV001244608
NM_002693.3(POLG):c.3296G>A (p.Trp1099Ter)	SNV Unknown	Chr15:89318727	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393750166	rs_2055345819	1 SubmittersRCV001262612
NM_002693.3(POLG):c.1780C>T (p.Leu594=)	SNV Germline	Chr15:89325619	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA7724688	rs_778172428	3 SubmittersRCV001289152 RCV002070095
NM_002693.3(POLG):c.1171-10C>G	SNV Germline	Chr15:89328545	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA1139664123	rs_1228287579	2 SubmittersRCV001289150 RCV003626672
NM_002693.3(POLG):c.726T>A (p.Ala242=)	SNV Germline	Chr15:89330210	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Conflicting Classifications	CA492080653	rs_2055576134	2 SubmittersRCV001287899 RCV003626671
NM_002693.3(POLG):c.722C>T (p.Pro241Leu)	SNV Germline	Chr15:89330214	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA393767074	rs_1452571273	2 SubmittersRCV001326765 RCV004793428
NM_002693.3(POLG):c.1586-1G>A	SNV Germline	Chr15:89326739	Likely pathogenic	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA393760685	rs_2055524549	2 SubmittersRCV001780251 RCV001332165
NM_002693.3(POLG):c.2566G>A (p.Glu856Lys)	SNV Germline	Chr15:89321768	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Condition: not provided not specified Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b	Criteria Provided Conflicting Classifications	CA274547255	rs_1032930719	5 SubmittersRCV001336496 RCV002466665 RCV005408842 RCV005005832
NM_002693.3(POLG):c.1950-10C>A	SNV Germline	Chr15:89324237	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA619857361	rs_749522324	2 SubmittersRCV001339811 RCV001664840
NM_002693.3(POLG):c.2982-9T>G	SNV Germline	Chr15:89319359	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA7724286	rs_774707044	2 SubmittersRCV001358833 RCV001550432
NM_002693.3(POLG):c.2585C>T (p.Ala862Val)	SNV Germline	Chr15:89321749	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393754204	rs_2152061668	1 SubmittersRCV001367160
NM_002693.3(POLG):c.268C>T (p.Gln90Ter)	SNV Germline	Chr15:89333487	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393773171	rs_1473911378	1 SubmittersRCV001390462
NM_002693.3(POLG):c.3522C>T (p.Pro1174=)	SNV Germline	Chr15:89317497	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA7724106	rs_751676137	2 SubmittersRCV001492799 RCV003481114
NM_002693.3(POLG):c.2862C>G (p.Ile954Met)	SNV Germline	Chr15:89320885	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy not specified	Criteria Provided Conflicting Classifications	CA393752726	rs_2152060967	3 SubmittersRCV001563093 RCV003626675 RCV003388026
NM_002693.3(POLG):c.163C>T (p.Gln55Ter)	SNV Germline	Chr15:89333592	Pathogenic/Likely pathogenic	Condition: not provided Progressive sclerosing poliodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA393774032	rs_2055626123	2 SubmittersRCV001582267 RCV003626676
NM_002693.3(POLG):c.1251-5C>T	SNV Germline	Chr15:89327354	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy POLG-related disorder	Criteria Provided Conflicting Classifications	CA7724891	rs_199621975	4 SubmittersRCV001590746 RCV003514513 RCV003985850
NM_002693.3(POLG):c.660-2A>G	SNV Germline	Chr15:89330278	Pathogenic/Likely pathogenic	Condition: not provided Progressive sclerosing poliodystrophy Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	Criteria Provided Multiple Submitters No Conflicts	CA393767410	rs_2141806882	4 SubmittersRCV001824510 RCV003626691 RCV005006083
NM_002693.3(POLG):c.1783C>T (p.Gln595Ter)	SNV Germline	Chr15:89325616	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393759373	rs_2152065937	1 SubmittersRCV001943891
NM_002693.3(POLG):c.2266-1G>A	SNV Germline	Chr15:89322903	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393756613	rs_2152062443	1 SubmittersRCV001970249
NM_002693.3(POLG):c.3347T>G (p.Met1116Arg)	SNV Germline	Chr15:89318676	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA393749929	rs_764036283	2 SubmittersRCV001880495 RCV004809683
NM_002693.3(POLG):c.624C>A (p.Cys208Ter)	SNV Germline	Chr15:89333131	Pathogenic/Likely pathogenic	Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	Criteria Provided Multiple Submitters No Conflicts	CA393770323	rs_1159974816	2 SubmittersRCV001918974 RCV003502611
NM_002693.3(POLG):c.3574G>T (p.Glu1192Ter)	SNV Germline	Chr15:89317445	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393747463	rs_2055309922	1 SubmittersRCV001925518
NM_002693.3(POLG):c.1950-2A>G	SNV Germline	Chr15:89324229	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393757928	rs_2152063472	1 SubmittersRCV002000611
NM_002693.3(POLG):c.2217C>A (p.Tyr739Ter)	SNV Germline	Chr15:89323452	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA7724542	rs_750514687	1 SubmittersRCV001917522
NM_002693.3(POLG):c.1709C>T (p.Pro570Leu)	SNV Germline	Chr15:89326615	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA7724729	rs_780695124	2 SubmittersRCV001881743 RCV002307782
NM_002693.3(POLG):c.846C>G (p.Tyr282Ter)	SNV Germline	Chr15:89330090	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393766544	rs_2152068651	1 SubmittersRCV001912854
NM_002693.3(POLG):c.907G>A (p.Gly303Arg)	SNV Germline	Chr15:89329059	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA7725001	rs_749799663	1 SubmittersRCV001957402
NM_002693.3(POLG):c.1720C>T (p.Arg574Trp)	SNV Germline	Chr15:89325679	Pathogenic	Progressive sclerosing poliodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA7724702	rs_774474723	3 SubmittersRCV002007520 RCV003322908
NM_002693.3(POLG):c.3482+2T>C	SNV Germline	Chr15:89318539	Pathogenic/Likely pathogenic	Progressive sclerosing poliodystrophy Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b	Criteria Provided Multiple Submitters No Conflicts	CA393749637	rs_1466226819	4 SubmittersRCV001939367 RCV005006313
NM_002693.3(POLG):c.1035G>A (p.Trp345Ter)	SNV Germline	Chr15:89328820	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393765237	rs_2152067996	1 SubmittersRCV001877576
NM_002693.3(POLG):c.3273+17G>A	SNV Germline	Chr15:89318914	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy 6 conditions	Criteria Provided Conflicting Classifications	CA7724188	rs_368578878	2 SubmittersRCV001905637 RCV002482668
NM_002693.3(POLG):c.1457G>A (p.Trp486Ter)	SNV Germline	Chr15:89327040	Pathogenic	Progressive sclerosing poliodystrophy Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b	Criteria Provided Multiple Submitters No Conflicts	CA393761144	rs_2055531147	2 SubmittersRCV001970028 RCV003490974
NM_002693.3(POLG):c.1433+2T>C	SNV Germline	Chr15:89327165	Pathogenic/Likely pathogenic	Progressive sclerosing poliodystrophy POLG-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA274556533	rs_920850257	3 SubmittersRCV001956083 RCV004698864
NM_002693.3(POLG):c.2753G>A (p.Trp918Ter)	SNV Germline	Chr15:89320994	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393753283	rs_2152061062	1 SubmittersRCV001927899
NM_002693.3(POLG):c.3589T>C (p.Cys1197Arg)	SNV Germline	Chr15:89317430	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA393747407	rs_1426811174	2 SubmittersRCV002042237 RCV002255694
NM_002693.3(POLG):c.3328C>T (p.His1110Tyr)	SNV Germline	Chr15:89318695	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy not specified	Criteria Provided Conflicting Classifications	CA393749974	rs_2152058760	4 SubmittersRCV002027135 RCV005406273
NM_002693.3(POLG):c.368T>G (p.Val123Gly)	SNV Germline	Chr15:89333387	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393772269	rs_2509275684	1 SubmittersRCV002292198
NM_002693.3(POLG):c.3104+1G>T	SNV Germline	Chr15:89319227	Likely pathogenic	Inborn genetic diseases Progressive sclerosing poliodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA393751242	rs_138917386	2 SubmittersRCV002326010 RCV003514555
NM_002693.3(POLG):c.2488G>A (p.Asp830Asn)	SNV Germline	Chr15:89321846	Conflicting classifications of pathogenicity	Inborn genetic diseases Progressive sclerosing poliodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA7724443	rs_760641207	3 SubmittersRCV002430885 RCV003101877 RCV002473384
NM_002693.3(POLG):c.2639C>A (p.Ala880Asp)	SNV Germline	Chr15:89321220	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy not specified	Criteria Provided Conflicting Classifications	CA393753827	rs_1378786011	3 SubmittersRCV002475510 RCV003514593 RCV005433230
NM_002693.3(POLG):c.2265+1G>A	SNV Germline	Chr15:89323403	Conflicting classifications of pathogenicity	Condition: not provided Progressive sclerosing poliodystrophy POLG-related disorder	Criteria Provided Conflicting Classifications	CA393756621	rs_796052884	3 SubmittersRCV002475511 RCV002571546 RCV003985873
NM_002693.3(POLG):c.2629A>G (p.Met877Val)	SNV Germline	Chr15:89321230	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	Criteria Provided Conflicting Classifications	CA7724391	rs_754025885	2 SubmittersRCV002574468 RCV005233091
NM_002693.3(POLG):c.2341G>A (p.Ala781Thr)	SNV Germline	Chr15:89322827	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy not specified POLG-related disorder	Criteria Provided Conflicting Classifications	CA7724501	rs_575660501	3 SubmittersRCV002587906 RCV003491250 RCV003985876
NM_002693.3(POLG):c.3305A>C (p.Gln1102Pro)	SNV Germline	Chr15:89318718	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393750112	rs_2509203709	1 SubmittersRCV002617170
NM_002693.3(POLG):c.178C>T (p.Gln60Ter)	SNV Germline	Chr15:89333577	Pathogenic/Likely pathogenic	Progressive sclerosing poliodystrophy Condition: not provided Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	Criteria Provided Multiple Submitters No Conflicts	CA393773862	rs_780379693	4 SubmittersRCV002715795 RCV003482419 RCV005008709
NM_002693.3(POLG):c.3551A>G (p.Asp1184Gly)	SNV Germline	Chr15:89317468	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA274539527	rs_376761578	2 SubmittersRCV002706023 RCV004725362
NM_002693.3(POLG):c.3400C>T (p.His1134Tyr)	SNV Germline	Chr15:89318623	Likely pathogenic	Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome	Criteria Provided Multiple Submitters No Conflicts	CA393749807	rs_2509202643	2 SubmittersRCV002740529 RCV005239496
NM_002693.3(POLG):c.2084A>G (p.Asp695Gly)	SNV Germline	Chr15:89323888	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA393757290	rs_1427384868	2 SubmittersRCV002770374 RCV002800068
NM_002693.3(POLG):c.229C>T (p.Gln77Ter)	SNV Germline	Chr15:89333526	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393773418	rs_2509276392	1 SubmittersRCV002824674
NM_002693.3(POLG):c.2666C>T (p.Ala889Val)	SNV Germline	Chr15:89321193	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393753743	rs_1232362461	1 SubmittersRCV002866545
NM_002693.3(POLG):c.1837C>G (p.His613Asp)	SNV Germline	Chr15:89325562	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	Criteria Provided Conflicting Classifications	CA393759261	rs_147407423	2 SubmittersRCV002917155 RCV005233032
NM_002693.3(POLG):c.659+1G>T	SNV Germline	Chr15:89333095	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393770103	rs_1348641548	1 SubmittersRCV002909910
NM_002693.3(POLG):c.1400C>A (p.Ala467Asp)	SNV Germline	Chr15:89327200	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy not specified	Criteria Provided Conflicting Classifications	CA393761699	rs_2509255963	2 SubmittersRCV002949674 RCV004765610
NM_002693.3(POLG):c.3304C>T (p.Gln1102Ter)	SNV Germline	Chr15:89318719	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393750120	rs_2509203728	1 SubmittersRCV003019300
NM_002693.3(POLG):c.2797A>C (p.Ser933Arg)	SNV Germline	Chr15:89320950	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393753079	rs_2509217516	1 SubmittersRCV003055508
NM_002693.3(POLG):c.1202G>A (p.Trp401Ter)	SNV Unknown	Chr15:89328504	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393764129	rs_2509260328	1 SubmittersRCV003463326
NM_002693.3(POLG):c.895A>C (p.Met299Leu)	SNV Germline	Chr15:89329071	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy not specified	Criteria Provided Conflicting Classifications	CA393765934	rs_140262282	2 SubmittersRCV003471714 RCV005433396
NM_002693.3(POLG):c.3643+1G>A	SNV Germline	Chr15:89317375	Pathogenic/Likely pathogenic	Progressive sclerosing poliodystrophy 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA393747172	rs_1326779034	3 SubmittersRCV003463330 RCV005356445
NM_002693.3(POLG):c.1250G>C (p.Arg417Thr)	SNV Unknown	Chr15:89328456	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393763931	rs_2509260144	1 SubmittersRCV003463331
NM_002693.3(POLG):c.2480+2T>C	SNV Germline	Chr15:89321960	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA393754890	rs_2509223240	2 SubmittersRCV003471715
NM_002693.3(POLG):c.3311C>G (p.Ser1104Cys)	SNV Germline	Chr15:89318712	Pathogenic/Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA393750072	rs_1010372555	2 SubmittersRCV003463336
NM_002693.3(POLG):c.1356T>G (p.Tyr452Ter)	SNV Germline	Chr15:89327244	Pathogenic	Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	Criteria Provided Multiple Submitters No Conflicts	CA393762089	rs_3176179	2 SubmittersRCV003471718 RCV005003644
NM_002693.3(POLG):c.1360G>T (p.Glu454Ter)	SNV Unknown	Chr15:89327240	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393762039	rs_2509256107	1 SubmittersRCV003471720
NM_002693.3(POLG):c.2070+2T>G	SNV Unknown	Chr15:89324105	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393757382	rs_2509233602	1 SubmittersRCV003463341
NM_002693.3(POLG):c.1251-2A>T	SNV Germline	Chr15:89327351	Pathogenic/Likely pathogenic	Progressive sclerosing poliodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA393762951	rs_2055536585	3 SubmittersRCV003463342 RCV005052054
NM_002693.3(POLG):c.2426+1G>A	SNV Germline	Chr15:89322741	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393756156	rs_1567187745	1 SubmittersRCV003514674
NM_002693.3(POLG):c.2798G>A (p.Ser933Asn)	SNV Germline	Chr15:89320949	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393753074	rs_1596352071	1 SubmittersRCV003514676
NM_002693.3(POLG):c.1433+1G>C	SNV Germline	Chr15:89327166	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393761455	rs_771623994	1 SubmittersRCV003514766
NM_002693.3(POLG):c.2981+1G>C	SNV Germline	Chr15:89320765	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393752110	rs_2509216493	1 SubmittersRCV003515308
NM_002693.3(POLG):c.2456C>A (p.Ser819Ter)	SNV Germline	Chr15:89321986	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393754967	rs_2509223374	1 SubmittersRCV003515534
NM_002693.3(POLG):c.136C>T (p.Gln46Ter)	SNV Germline	Chr15:89333619	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393774410	rs_2055628382	1 SubmittersRCV003515570
NM_002693.3(POLG):c.3268G>T (p.Glu1090Ter)	SNV Germline	Chr15:89318936	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393750411	rs_759284625	1 SubmittersRCV003514195
NM_002693.3(POLG):c.2789A>G (p.Asp930Gly)	SNV Germline	Chr15:89320958	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393753111	rs_2509217554	1 SubmittersRCV003514205
NM_002693.3(POLG):c.3316G>A (p.Val1106Ile)	SNV Germline	Chr15:89318707	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393750052	rs_1567185212	1 SubmittersRCV003516366
NM_002693.3(POLG):c.2788G>A (p.Asp930Asn)	SNV Germline	Chr15:89320959	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393753119	rs_2055386406	1 SubmittersRCV003516367
NM_002693.3(POLG):c.2740A>G (p.Thr914Ala)	SNV Germline	Chr15:89321007	Likely pathogenic	Progressive sclerosing poliodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA393753337	rs_139590686	2 SubmittersRCV003516368 RCV005052059
NM_002693.3(POLG):c.2420G>C (p.Arg807Pro)	SNV Germline	Chr15:89322748	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393756188	rs_796052887	1 SubmittersRCV003516369
NM_002693.3(POLG):c.1874C>G (p.Pro625Arg)	SNV Germline	Chr15:89325525	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393759180	rs_1064794214	1 SubmittersRCV003516371
NM_002693.3(POLG):c.2341G>C (p.Ala781Pro)	SNV Germline	Chr15:89322827	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA393756436	rs_575660501	2 SubmittersRCV003514865 RCV004698885
NM_002693.3(POLG):c.2680C>T (p.Gln894Ter)	SNV Germline	Chr15:89321179	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393753676	rs_2509218972	1 SubmittersRCV003514888
NM_002693.3(POLG):c.2982-1G>A	SNV Germline	Chr15:89319351	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393751502	rs_1064793493	1 SubmittersRCV003515250
NM_002693.3(POLG):c.1860G>A (p.Trp620Ter)	SNV Germline	Chr15:89325539	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393759208	rs_2509248765	1 SubmittersRCV003514905
NM_002693.3(POLG):c.935G>A (p.Trp312Ter)	SNV Germline	Chr15:89329031	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393765727	rs_2509262236	1 SubmittersRCV003515259
NM_002693.3(POLG):c.1796C>T (p.Thr599Ile)	SNV Germline	Chr15:89325603	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393759347	rs_2509249045	1 SubmittersRCV003515837
NM_002693.3(POLG):c.1023+1G>A	SNV Germline	Chr15:89328942	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393765326	rs_2509261900	1 SubmittersRCV003626885
NM_002693.3(POLG):c.2557C>G (p.Arg853Gly)	SNV Germline	Chr15:89321777	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393754389	rs_121918053	1 SubmittersRCV003626909
NM_002693.3(POLG):c.1185C>G (p.Tyr395Ter)	SNV Germline	Chr15:89328521	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393764258	rs_2509260376	1 SubmittersRCV003626973
NM_002693.3(POLG):c.1356T>A (p.Tyr452Ter)	SNV Germline	Chr15:89327244	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393762082	rs_3176179	1 SubmittersRCV003627593
NM_002693.3(POLG):c.1451G>A (p.Trp484Ter)	SNV Germline	Chr15:89327046	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393761192	rs_2509255117	1 SubmittersRCV003627819
NM_002693.3(POLG):c.2598+1G>A	SNV Germline	Chr15:89321735	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA7724415	rs_372740330	1 SubmittersRCV003627802
NM_002693.3(POLG):c.1942C>T (p.Pro648Ser)	SNV Germline	Chr15:89325457	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393758919	rs_2055502246	1 SubmittersRCV003627853
NM_002693.3(POLG):c.1950-1G>A	SNV Germline	Chr15:89324228	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393757924	rs_2509234272	1 SubmittersRCV003627951
NM_002693.3(POLG):c.145C>T (p.Gln49Ter)	SNV Germline	Chr15:89333610	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393774294	rs_200132079	1 SubmittersRCV003628031
NM_002693.3(POLG):c.2764C>T (p.Gln922Ter)	SNV Germline	Chr15:89320983	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393753228	rs_2509217738	1 SubmittersRCV003628071
NM_002693.3(POLG):c.3402T>G (p.His1134Gln)	SNV Germline	Chr15:89318621	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393749802	rs_749765817	1 SubmittersRCV003628169
NM_002693.3(POLG):c.2552C>G (p.Thr851Ser)	SNV Germline	Chr15:89321782	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393754402	rs_765339802	1 SubmittersRCV003628055
NM_002693.3(POLG):c.2552C>A (p.Thr851Asn)	SNV Germline	Chr15:89321782	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA7724426	rs_765339802	1 SubmittersRCV003628421
NM_002693.3(POLG):c.730C>T (p.Leu244Phe)	SNV Germline	Chr15:89330206	Conflicting classifications of pathogenicity	Progressive sclerosing poliodystrophy not specified	Criteria Provided Conflicting Classifications	CA393767043	rs_367959489	2 SubmittersRCV003626360 RCV005433437
NM_002693.3(POLG):c.2480+1G>T	SNV Germline	Chr15:89321961	Pathogenic/Likely pathogenic	Progressive sclerosing poliodystrophy POLG-Related Spectrum Disorders Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	Criteria Provided Multiple Submitters No Conflicts	CA393754897	rs_1567187326	3 SubmittersRCV003626199 RCV005407216 RCV005003692
NM_002693.3(POLG):c.3328C>A (p.His1110Asn)	SNV Germline	Chr15:89318695	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393749977	rs_2152058760	1 SubmittersRCV003626467
NM_002693.3(POLG):c.967C>T (p.Gln323Ter)	SNV Germline	Chr15:89328999	Pathogenic/Likely pathogenic	Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	Criteria Provided Multiple Submitters No Conflicts	CA393765581	rs_2509262137	2 SubmittersRCV003627176 RCV005013134
NM_002693.3(POLG):c.3152G>C (p.Gly1051Ala)	SNV Germline	Chr15:89319052	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA7724221	rs_775248939	1 SubmittersRCV003627485
NM_002693.3(POLG):c.157C>T (p.Gln53Ter)	SNV Germline	Chr15:89333598	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393774175	rs_2509277006	1 SubmittersRCV003627563
NM_002693.3(POLG):c.3482+1G>T	SNV Germline	Chr15:89318540	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter	CA393749639	rs_2509201560	1 SubmittersRCV003873267
NM_002693.3(POLG):c.130C>T (p.Gln44Ter)	SNV Germline	Chr15:89333625	Likely pathogenic	Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	Criteria Provided Multiple Submitters No Conflicts		rs_2509277475	2 SubmittersRCV004574589 RCV005006440
NM_002693.3(POLG):c.1712+2T>G	SNV Unknown	Chr15:89326610	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter		rs_2509252741	1 SubmittersRCV004574590
NM_002693.3(POLG):c.659+1G>C	SNV Unknown	Chr15:89333095	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter		rs_1348641548	1 SubmittersRCV004574592
NM_002693.3(POLG):c.855+1G>C	SNV Germline	Chr15:89330080	Likely pathogenic	Progressive sclerosing poliodystrophy POLG-Related Spectrum Disorders	Criteria Provided Multiple Submitters No Conflicts		rs_2509264996	2 SubmittersRCV004574593 RCV005433518
NM_002693.3(POLG):c.2755A>G (p.Met919Val)	SNV Germline	Chr15:89320992	Likely pathogenic	Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	Criteria Provided Single Submitter		rs_1299487054	1 SubmittersRCV004574886
NM_002693.3(POLG):c.2768G>A (p.Gly923Asp)	SNV Germline	Chr15:89320979	Conflicting classifications of pathogenicity	Mitochondrial DNA depletion syndrome Progressive sclerosing poliodystrophy Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	Criteria Provided Conflicting Classifications			3 SubmittersRCV004689538 RCV005103537 RCV005006494
NM_002693.3(POLG):c.2902C>G (p.Gln968Glu)	SNV Germline	Chr15:89320845	Conflicting classifications of pathogenicity	not specified Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	Criteria Provided Conflicting Classifications			2 SubmittersRCV004699991 RCV005006501
NM_002693.3(POLG):c.3104+3A>C	SNV Germline	Chr15:89319225	Likely pathogenic	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	Criteria Provided Single Submitter			1 SubmittersRCV005003299
NM_002693.3(POLG):c.2209G>T (p.Gly737Ter)	SNV Germline	Chr15:89323460	Likely pathogenic	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	Criteria Provided Single Submitter			1 SubmittersRCV005003302
NM_002693.3(POLG):c.2185C>T (p.Gln729Ter)	SNV Germline	Chr15:89323484	Likely pathogenic	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	Criteria Provided Single Submitter			1 SubmittersRCV005012117
NM_002693.3(POLG):c.1949+1G>C	SNV Germline	Chr15:89325449	Likely pathogenic	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	Criteria Provided Single Submitter			1 SubmittersRCV005003304
NM_002693.3(POLG):c.1170+1G>C	SNV Germline	Chr15:89328684	Likely pathogenic	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	Criteria Provided Single Submitter			1 SubmittersRCV005003305
NM_002693.3(POLG):c.1157G>C (p.Arg386Pro)	SNV Germline	Chr15:89328698	Likely pathogenic	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	Criteria Provided Single Submitter			1 SubmittersRCV005012120
NM_002693.3(POLG):c.1023+1G>C	SNV Germline	Chr15:89328942	Likely pathogenic	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Progressive sclerosing poliodystrophy Mitochondrial DNA depletion syndrome 4b Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	Criteria Provided Single Submitter			1 SubmittersRCV005012121
NM_002693.3(POLG):c.2690G>A (p.Trp897Ter)	SNV Germline	Chr15:89321169	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005081624
NM_002693.3(POLG):c.1171-2A>G	SNV Germline	Chr15:89328537	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005123664
NM_002693.3(POLG):c.1996C>T (p.Gln666Ter)	SNV Germline	Chr15:89324181	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005143398
NM_002693.3(POLG):c.782G>A (p.Trp261Ter)	SNV Germline	Chr15:89330154	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005168659
NM_002693.3(POLG):c.3543T>A (p.Ser1181Arg)	SNV Germline	Chr15:89317476	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005192588
NM_002693.3(POLG):c.934T>C (p.Trp312Arg)	SNV Germline	Chr15:89329032	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005195678
NM_002693.3(POLG):c.313G>T (p.Glu105Ter)	SNV Germline	Chr15:89333442	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005207335
NM_002693.3(POLG):c.3319G>A (p.Asp1107Asn)	SNV Germline	Chr15:89318704	Likely pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005233261
NM_002693.3(POLG):c.1180C>T (p.Gln394Ter)	SNV Germline	Chr15:89328526	Pathogenic	Progressive sclerosing poliodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005410071
NM_002693.3(POLG):c.3265C>T (p.Gln1089Ter)	SNV Germline	Chr15:89318939	Likely pathogenic	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Progressive sclerosing poliodystrophy Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4b	Criteria Provided Single Submitter			1 SubmittersRCV005413231

SNV
Germline

Chr2:108929288

Pathogenic

Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA130257

rs_121908450

4 SubmittersRCV000006206 RCV000032598 RCV000681480 RCV001253315 RCV001038628

NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys)

SNV
Germline

Chr15:89320883

Pathogenic/Likely pathogenic

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Mitochondrial disease
Condition: not provided
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA341291

rs_113994099

11 SubmittersRCV000014439 RCV000508934 RCV000676321 RCV000758267 RCV003478975

NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)

SNV
Germline

Chr15:89327201

Conflicting classifications of pathogenicity

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Spinocerebellar ataxia with epilepsy
Progressive sclerosing poliodystrophy
Condition: not provided
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
POLG-Related Spectrum Disorders
Mitochondrial disease
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
POLG-related disorder
Mitochondrial DNA depletion syndrome 4b
Tip-toe gait
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Neurodevelopmental delay
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Hereditary spastic paraplegia
Inborn genetic diseases
Intellectual disability

Criteria Provided
Conflicting Classifications

CA123140

rs_113994095

49 SubmittersRCV000014440 RCV000014441 RCV000014442 RCV000014443 RCV000188658 RCV000184011 RCV000347876 RCV000508942 RCV001004604 RCV001095683 RCV001198082 RCV001376079 RCV001731286 RCV002273931 RCV001813983 RCV001847600 RCV002316195 RCV005624689

NM_002693.3(POLG):c.911T>G (p.Leu304Arg)

SNV
Germline

Chr15:89329055

Pathogenic/Likely pathogenic

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Condition: not provided
Progressive sclerosing poliodystrophy
6 conditions
Inborn genetic diseases
POLG-related disorder
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

Criteria Provided
Multiple Submitters
No Conflicts

CA256883

rs_121918044

18 SubmittersRCV000014444 RCV000188648 RCV000626287 RCV000762954 RCV001266602 RCV003387722 RCV005007843

NM_002693.3(POLG):c.1879C>T (p.Arg627Trp)

SNV
Germline

Chr15:89325520

Pathogenic

Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Condition: not provided
Mitochondrial DNA depletion syndrome
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Mitochondrial DNA depletion syndrome 4b

Criteria Provided
Multiple Submitters
No Conflicts

CA256887

rs_121918046

6 SubmittersRCV000014446 RCV001382679 RCV001781264 RCV004579531 RCV005003357

NM_002693.3(POLG):c.2794C>T (p.His932Tyr)

SNV
Germline

Chr15:89320953

Pathogenic

Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Condition: not provided
Mitochondrial DNA depletion syndrome
Mitochondrial disease
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Mitochondrial DNA depletion syndrome 4b

Criteria Provided
Multiple Submitters
No Conflicts

CA256891

rs_121918048

7 SubmittersRCV000014454 RCV000758263 RCV001797046 RCV004700232 RCV004786259 RCV005007844

NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg)

SNV
Germline

Chr15:89319053

Pathogenic/Likely pathogenic

Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Condition: not provided
POLG-Related Spectrum Disorders
Progressive sclerosing poliodystrophy
See cases
Autosomal dominant non-syndromic intellectual disability
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Mitochondrial DNA depletion syndrome 4b

Criteria Provided
Multiple Submitters
No Conflicts

CA256893

rs_121918049

12 SubmittersRCV000014455 RCV000188604 RCV000778451 RCV000226986 RCV002251905 RCV004760332 RCV005007845

NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)

SNV
Germline

Chr15:89321792

Pathogenic

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Condition: not provided
POLG-Related Spectrum Disorders
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Hereditary spastic paraplegia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome
Mitochondrial disease
Inborn genetic diseases
POLG-related disorder
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA123144

rs_113994098

38 SubmittersRCV000014449 RCV000014450 RCV000014451 RCV000014452 RCV000188580 RCV000363602 RCV000678386 RCV001027839 RCV001847601 RCV002054437 RCV003230362 RCV002272018 RCV002313707 RCV003231103 RCV005364878

NM_002693.3(POLG):c.752C>T (p.Thr251Ile)

SNV
Germline

Chr15:89330184

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Condition: not provided
not specified
POLG-Related Spectrum Disorders
Global developmental delay
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Abnormality of the nervous system
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial disease
Hypertrophic cardiomyopathy
Hereditary spastic paraplegia
Mitochondrial DNA depletion syndrome 1
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
See cases
Mitochondrial DNA depletion syndrome
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
6 conditions
Tip-toe gait
POLG-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA123142

rs_113994094

51 SubmittersRCV000014448 RCV000014447 RCV000184009 RCV000188641 RCV000194055 RCV000262479 RCV000415105 RCV001004407 RCV001813985 RCV001642225 RCV002272019 RCV002319423 RCV001847602 RCV000020484 RCV003458331 RCV004584325 RCV005406744 RCV005007846 RCV005357125 RCV001678594 RCV001813742 RCV002313708

NM_002693.3(POLG):c.2617G>T (p.Glu873Ter)

SNV
Germline

Chr15:89321242

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA256889

rs_121918047

2 SubmittersRCV000014453

NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)

SNV
Germline

Chr15:89325639

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome 4b
Mitochondrial DNA depletion syndrome 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
not specified
Mitochondrial disease
Global developmental delay
Progressive sclerosing poliodystrophy
Condition: not provided
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Hereditary spastic paraplegia
POLG-related disorder
Hypertrophic cardiomyopathy
See cases
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
6 conditions
Tip-toe gait
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Abnormality of the nervous system
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA123146

rs_113994096

52 SubmittersRCV000014456 RCV000020473 RCV000186576 RCV000193529 RCV000508752 RCV000415307 RCV000408293 RCV000427845 RCV001004602 RCV001847603 RCV001813743 RCV002319424 RCV004584326 RCV003458332 RCV005357126 RCV001610290 RCV001642226 RCV001813986 RCV002313709

NM_002693.3(POLG):c.2591A>G (p.Asn864Ser)

SNV
Germline

Chr15:89321743

Pathogenic

Mitochondrial DNA depletion syndrome 4b
Mitochondrial DNA depletion syndrome
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA123148

rs_121918050

4 SubmittersRCV000014458 RCV004586006 RCV005007847 RCV002513043

NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)

SNV
Germline

Chr15:89323426

Pathogenic/Likely pathogenic

Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Spinocerebellar ataxia with epilepsy
Progressive sclerosing poliodystrophy
Condition: not provided
POLG-Related Spectrum Disorders
Mitochondrial disease
not specified
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Inborn genetic diseases
POLG-related disorder
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA123150

rs_113994097

41 SubmittersRCV000014459 RCV000014460 RCV000014461 RCV000080023 RCV000313739 RCV000508846 RCV000507757 RCV001198081 RCV002247336 RCV002313710 RCV003985719 RCV005007848 RCV005364879

NM_002693.3(POLG):c.2869G>T (p.Ala957Ser)

SNV
Germline

Chr15:89320878

Pathogenic/Likely pathogenic

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive sclerosing poliodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA256895

rs_121918051

3 SubmittersRCV000014462 RCV003460472

NM_002693.3(POLG):c.3057G>A (p.Trp1019Ter)

SNV
Germline

Chr15:89319275

Pathogenic

Progressive sclerosing poliodystrophy

No Assertion Criteria Provided

CA393751344

rs_1567185775

1 SubmittersRCV000014465

NM_002693.3(POLG):c.2557C>T (p.Arg853Trp)

SNV
Germline

Chr15:89321777

Conflicting classifications of pathogenicity

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
not specified
Condition: not provided
Mitochondrial DNA depletion syndrome
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

Criteria Provided
Conflicting Classifications

CA256899

rs_121918053

7 SubmittersRCV000014466 RCV000560575 RCV001449754 RCV003333951 RCV003330388 RCV005007849

NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)

SNV
Germline

Chr15:89323460

Pathogenic/Likely pathogenic

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Condition: not provided
Mitochondrial disease
POLG-Related Spectrum Disorders
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Inborn genetic diseases
POLG-related disorder
Hereditary spastic paraplegia
Tip-toe gait

Criteria Provided
Multiple Submitters
No Conflicts

CA201029

rs_121918054

34 SubmittersRCV000014467 RCV000233045 RCV000188568 RCV000508744 RCV000370280 RCV000768053 RCV001004601 RCV001813987 RCV002316196 RCV003985721 RCV001847605 RCV003318542

NM_002693.3(POLG):c.679C>T (p.Arg227Trp)

SNV
Germline

Chr15:89330257

Pathogenic/Likely pathogenic

Mitochondrial DNA depletion syndrome 4b
Condition: not provided
Progressive sclerosing poliodystrophy
Abnormality of corpus callosum
Inborn genetic diseases
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Mitochondrial DNA depletion syndrome 4b
Mitochondrial DNA depletion syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA123154

rs_121918056

12 SubmittersRCV000014469 RCV000255169 RCV000525480 RCV000787362 RCV002513044 RCV005007850 RCV004586007

NM_002693.3(POLG):c.3218C>T (p.Pro1073Leu)

SNV
Germline

Chr15:89318986

Pathogenic

Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA123156

rs_267606959

7 SubmittersRCV000014470 RCV000014471 RCV000188673

NM_002693.3(POLG):c.3436C>T (p.Arg1146Cys)

SNV
Germline

Chr15:89318587

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
not specified

Criteria Provided
Conflicting Classifications

CA292845

rs_2307440

8 SubmittersRCV000513124 RCV000545884 RCV005406757

NM_002693.3(POLG):c.695G>A (p.Arg232His)

SNV
Germline

Chr15:89330241

Pathogenic

Mitochondrial disease
Condition: not provided
Mitochondrial DNA depletion syndrome
Progressive sclerosing poliodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA341891

rs_113994093

4 SubmittersRCV000020483 RCV000412961 RCV005237397 RCV003514301

NM_002693.3(POLG):c.970C>T (p.Pro324Ser)

SNV
Germline

Chr15:89328996

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
Condition: not provided
POLG-Related Spectrum Disorders
Hereditary spastic paraplegia
Inborn genetic diseases
POLG-related disorder
Charcot-Marie-Tooth disease

Criteria Provided
Conflicting Classifications

CA292863

rs_2307437

18 SubmittersRCV000127555 RCV000468571 RCV000710190 RCV001121509 RCV001847613 RCV002371780 RCV004732552 RCV005624701

NM_002693.3(POLG):c.264C>T (p.Phe88=)

SNV
Germline

Chr15:89333491

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Progressive sclerosing poliodystrophy
Inborn genetic diseases
POLG-Related Spectrum Disorders
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA288984

rs_144439703

17 SubmittersRCV000118014 RCV000436920 RCV000227341 RCV002313915 RCV001116623 RCV001847711

NM_002693.3(POLG):c.3131T>C (p.Val1044Ala)

SNV
Germline

Chr15:89319073

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions
EEG abnormality
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Mitochondrial DNA depletion syndrome 4b
not specified
POLG-related disorder
Hereditary spastic paraplegia
Early-onset Parkinson disease 20
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA231404

rs_150233690

17 SubmittersRCV000118016 RCV000515366 RCV000678829 RCV000234341 RCV002243762 RCV003330442 RCV004732689 RCV001847713 RCV002272131 RCV002316314

NM_002693.3(POLG):c.3482+7G>A

SNV
Germline

Chr15:89318534

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA288988

rs_200309191

6 SubmittersRCV000118019 RCV000633572 RCV000726902

NM_002693.3(POLG):c.2028G>A (p.Ala676=)

SNV
Germline

Chr15:89324149

Conflicting classifications of pathogenicity

POLG-Related Spectrum Disorders
not specified
Progressive sclerosing poliodystrophy
Hereditary spastic paraplegia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA292825

rs_373550219

9 SubmittersRCV000263177 RCV000127516 RCV000457002 RCV001847749 RCV000710184 RCV002415616

NM_002693.3(POLG):c.2071-14T>G

SNV
Germline

Chr15:89323915

Conflicting classifications of pathogenicity

not specified
POLG-Related Spectrum Disorders
Progressive sclerosing poliodystrophy
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA292827

rs_150088708

5 SubmittersRCV000127517 RCV000373859 RCV000758509 RCV003985727

NM_002693.3(POLG):c.2109C>T (p.Ala703=)

SNV
Germline

Chr15:89323863

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
POLG-Related Spectrum Disorders
Condition: not provided
Inborn genetic diseases
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA292828

rs_2307429

6 SubmittersRCV000127519 RCV000869076 RCV001119423 RCV001289153 RCV002415617 RCV003985728

NM_002693.3(POLG):c.2157+11C>T

SNV
Germline

Chr15:89323804

Conflicting classifications of pathogenicity

not specified
POLG-Related Spectrum Disorders
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA292829

rs_56411159

4 SubmittersRCV000127520 RCV000316850 RCV000758558

NM_002693.3(POLG):c.2481-7C>T

SNV
Germline

Chr15:89321860

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Progressive sclerosing poliodystrophy
Tip-toe gait
POLG-related disorder
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA292830

rs_2307448

16 SubmittersRCV000212876 RCV000676323 RCV000474664 RCV001327991 RCV003985729 RCV001847750

NM_002693.3(POLG):c.2541C>T (p.Ala847=)

SNV
Germline

Chr15:89321793

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
Condition: not provided
Inborn genetic diseases
POLG-Related Spectrum Disorders

Criteria Provided
Conflicting Classifications

CA292831

rs_143810171

8 SubmittersRCV000127524 RCV000470778 RCV000710185 RCV002316395 RCV001117865

NM_002693.3(POLG):c.2601T>C (p.Pro867=)

SNV
Germline

Chr15:89321258

Conflicting classifications of pathogenicity

not specified
POLG-Related Spectrum Disorders
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Condition: not provided
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA292834

rs_201749977

6 SubmittersRCV000127526 RCV000403402 RCV001457683 RCV000709782 RCV000734626 RCV003985730

NM_002693.3(POLG):c.2735-7C>G

SNV
Germline

Chr15:89321019

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
Condition: not provided
POLG-Related Spectrum Disorders

Criteria Provided
Conflicting Classifications

CA292837

rs_200372494

7 SubmittersRCV000127528 RCV000463735 RCV000658724 RCV001116419

NM_002693.3(POLG):c.2853C>T (p.Tyr951=)

SNV
Germline

Chr15:89320894

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
Condition: not provided
POLG-Related Spectrum Disorders
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA232559

rs_41546712

12 SubmittersRCV000186650 RCV000471041 RCV000712796 RCV001116417 RCV001847751 RCV002316396

NM_002693.3(POLG):c.87C>T (p.Ser29=)

SNV
Germline

Chr15:89333668

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
POLG-Related Spectrum Disorders
Inborn genetic diseases
Condition: not provided
POLG-related disorder
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA292838

rs_587781116

8 SubmittersRCV000127532 RCV000861520 RCV001116626 RCV002371969 RCV001288358 RCV003985731 RCV001847752

NM_002693.3(POLG):c.3198G>A (p.Thr1066=)

SNV
Germline

Chr15:89319006

Conflicting classifications of pathogenicity

not specified
POLG-Related Spectrum Disorders
Progressive sclerosing poliodystrophy
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA292840

rs_61752780

14 SubmittersRCV000127533 RCV000338380 RCV000475971 RCV000676319 RCV001847753 RCV002312589

NM_002693.3(POLG):c.3216C>G (p.Thr1072=)

SNV
Germline

Chr15:89318988

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA232561

rs_146936870

7 SubmittersRCV000186651 RCV000697212 RCV000723849 RCV002321613

NM_002693.3(POLG):c.3482+6C>T

SNV
Germline

Chr15:89318535

Conflicting classifications of pathogenicity

not specified
POLG-Related Spectrum Disorders
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Progressive sclerosing poliodystrophy
Condition: not provided
Hereditary spastic paraplegia
Mitochondrial DNA depletion syndrome 4b

Criteria Provided
Conflicting Classifications

CA292847

rs_55779802

10 SubmittersRCV000127539 RCV000316461 RCV000768049 RCV000559092 RCV000726414 RCV001847754 RCV003441747

NM_002693.3(POLG):c.3564C>T (p.Cys1188=)

SNV
Germline

Chr15:89317455

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
Hereditary spastic paraplegia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA292854

rs_146584956

5 SubmittersRCV000127546 RCV000547592 RCV001847755 RCV003311689

NM_002693.3(POLG):c.3700C>A (p.Arg1234=)

SNV
Germline

Chr15:89316771

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Progressive sclerosing poliodystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA292858

rs_144346886

7 SubmittersRCV000127550 RCV000710187 RCV000536053 RCV002345437

NM_002693.3(POLG):c.798G>T (p.Val266=)

SNV
Germline

Chr15:89330138

Conflicting classifications of pathogenicity

not specified
POLG-Related Spectrum Disorders
Progressive sclerosing poliodystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA232563

rs_143631183

10 SubmittersRCV000186652 RCV000297854 RCV000554937 RCV000723862 RCV002316397

NM_002693.3(POLG):c.975C>A (p.Pro325=)

SNV
Germline

Chr15:89328991

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Progressive sclerosing poliodystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA292865

rs_551973680

6 SubmittersRCV000127556 RCV000727457 RCV001084800 RCV002312591

NM_002693.3(POLG):c.1066C>T (p.Leu356=)

SNV
Germline

Chr15:89328789

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
Condition: not provided
POLG-Related Spectrum Disorders
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA292867

rs_371431444

9 SubmittersRCV000127557 RCV000476514 RCV000726665 RCV001119513 RCV002408634

NM_002693.3(POLG):c.1275C>T (p.Ala425=)

SNV
Germline

Chr15:89327325

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
Condition: not provided
Inborn genetic diseases
Hereditary spastic paraplegia
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA292871

rs_147404477

11 SubmittersRCV000127559 RCV000558064 RCV000725687 RCV002371970 RCV001847757 RCV003985732

NM_002693.3(POLG):c.1386G>A (p.Ser462=)

SNV
Germline

Chr15:89327214

Conflicting classifications of pathogenicity

not specified
Hereditary spastic paraplegia
POLG-Related Spectrum Disorders
POLG-related disorder
Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA292873

rs_62640034

7 SubmittersRCV000127560 RCV001847758 RCV000402563 RCV003985733 RCV000725999 RCV000758496

NM_002693.3(POLG):c.1585+11T>C

SNV
Germline

Chr15:89326901

Conflicting classifications of pathogenicity

not specified
POLG-Related Spectrum Disorders
Progressive sclerosing poliodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA292875

rs_201566815

6 SubmittersRCV000127561 RCV000290628 RCV000758502 RCV001529836

NM_002693.3(POLG):c.1713-5C>T

SNV
Germline

Chr15:89325691

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA292879

rs_148494026

5 SubmittersRCV000127564 RCV000758408 RCV003985734

NM_002693.3(POLG):c.1743C>T (p.Asp581=)

SNV
Germline

Chr15:89325656

Conflicting classifications of pathogenicity

not specified
POLG-Related Spectrum Disorders
Progressive sclerosing poliodystrophy
Inborn genetic diseases
POLG-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA292880

rs_140743000

9 SubmittersRCV000127565 RCV000382683 RCV000758355 RCV002312592 RCV003985735 RCV003398746

NM_002693.3(POLG):c.1837C>T (p.His613Tyr)

SNV
Germline

Chr15:89325562

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
Condition: not provided
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Mitochondrial DNA depletion syndrome 4b
Inborn genetic diseases
POLG-related disorder
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b

Criteria Provided
Conflicting Classifications

CA302712

rs_147407423

14 SubmittersRCV000173762 RCV000538134 RCV000710183 RCV000768055 RCV002313026 RCV003985737 RCV004799186

NM_002693.3(POLG):c.1956C>T (p.Ile652=)

SNV
Germline

Chr15:89324221

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA239534

rs_757860628

3 SubmittersRCV000174067 RCV000724790 RCV001413886

NM_002693.3(POLG):c.2724C>T (p.Ala908=)

SNV
Germline

Chr15:89321135

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Progressive sclerosing poliodystrophy
POLG-Related Spectrum Disorders
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA240872

rs_377390914

8 SubmittersRCV000188516 RCV000676322 RCV001080845 RCV001116420 RCV002453613

NM_002693.3(POLG):c.2857C>T (p.Arg953Cys)

SNV
Germline

Chr15:89320890

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
POLG-Related Spectrum Disorders
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA241026

rs_11546842

10 SubmittersRCV000175301 RCV000758266 RCV001808449 RCV003323426 RCV004732740

NM_002693.3(POLG):c.114G>T (p.Gly38=)

SNV
Germline

Chr15:89333641

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
POLG-related disorder
6 conditions

Criteria Provided
Conflicting Classifications

CA241473

rs_794727268

4 SubmittersRCV000175729 RCV001852155 RCV004732741 RCV002485137

NM_002693.3(POLG):c.131A>G (p.Gln44Arg)

SNV
Germline

Chr15:89333624

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Progressive sclerosing poliodystrophy
POLG-related disorder
6 conditions

Criteria Provided
Conflicting Classifications

CA241477

rs_757120802

9 SubmittersRCV000724683 RCV002381572 RCV000551143 RCV003985738 RCV005396531

NM_002693.3(POLG):c.603C>T (p.Val201=)

SNV
Germline

Chr15:89333152

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA241479

rs_768005050

4 SubmittersRCV000188637 RCV000724613 RCV001417417

NM_002693.3(POLG):c.32G>A (p.Gly11Asp)

SNV
Germline

Chr15:89333723

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
POLG-Related Spectrum Disorders
Inborn genetic diseases
Hereditary spastic paraplegia
not specified
POLG-related disorder
Condition: not provided
6 conditions
Intellectual disability

Criteria Provided
Conflicting Classifications

CA302812

rs_765472726

16 SubmittersRCV000633544 RCV001116627 RCV002453618 RCV001847811 RCV004526626 RCV003985740 RCV000724132 RCV000763999 RCV001252351

NM_002693.3(POLG):c.803G>C (p.Gly268Ala)

SNV
Germline

Chr15:89330133

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
POLG-related disorder
Condition: not provided
Inborn genetic diseases
Hereditary spastic paraplegia
Tip-toe gait
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
POLG-Related Spectrum Disorders
Charcot-Marie-Tooth disease axonal type 2U

Criteria Provided
Conflicting Classifications

CA202319

rs_61752784

21 SubmittersRCV000177165 RCV000233823 RCV000709833 RCV000415771 RCV002312719 RCV001847817 RCV002227084 RCV000768291 RCV001121511 RCV002516726

NM_002693.3(POLG):c.1174C>G (p.Leu392Val)

SNV
Germline

Chr15:89328532

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
6 conditions
Condition: not provided
POLG-Related Spectrum Disorders
Hereditary spastic paraplegia
Inborn genetic diseases
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA246660

rs_145289229

14 SubmittersRCV000188651 RCV000475753 RCV000515415 RCV000710181 RCV001119511 RCV001847818 RCV002317054 RCV003985741

NM_002693.3(POLG):c.3652C>T (p.Leu1218=)

SNV
Germline

Chr15:89316819

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Progressive sclerosing poliodystrophy
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA316629

rs_146301349

5 SubmittersRCV000188539 RCV000726207 RCV000758388 RCV003985749

NM_002693.3(POLG):c.3630C>G (p.Tyr1210Ter)

SNV
Germline

Chr15:89317389

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA316790

rs_139562274

2 SubmittersRCV001878352

NM_002693.3(POLG):c.3586G>A (p.Asp1196Asn)

SNV
Germline

Chr15:89317433

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
Hereditary spastic paraplegia
not specified

Criteria Provided
Conflicting Classifications

CA316786

rs_765344513

5 SubmittersRCV000188628 RCV000758333 RCV001847833 RCV005431539

NM_002693.3(POLG):c.3559C>T (p.Arg1187Trp)

SNV
Germline

Chr15:89317460

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA316784

rs_369544574

10 SubmittersRCV000188627 RCV000633564 RCV000712805 RCV001847832 RCV002453696 RCV003985759

NM_002693.3(POLG):c.3516C>G (p.Asp1172Glu)

SNV
Germline

Chr15:89317503

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA316782

rs_766196697

2 SubmittersRCV000188626 RCV000758328

NM_002693.3(POLG):c.3509T>G (p.Leu1170Arg)

SNV
Germline

Chr15:89317510

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA316875

rs_796052913

4 SubmittersRCV000758327

NM_002693.3(POLG):c.3470A>G (p.Asn1157Ser)

SNV
Germline

Chr15:89318553

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA316774

rs_548076633

3 SubmittersRCV000188622 RCV000758478

NM_002693.3(POLG):c.3450C>T (p.Ala1150=)

SNV
Germline

Chr15:89318573

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA316608

rs_774880085

7 SubmittersRCV000188527 RCV000758476 RCV000734120 RCV002317141

NM_002693.3(POLG):c.3406G>A (p.Glu1136Lys)

SNV
Germline

Chr15:89318617

Pathogenic/Likely pathogenic

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA316760

rs_56047213

3 SubmittersRCV000188615 RCV001857636

NM_002693.3(POLG):c.3313G>C (p.Ala1105Pro)

SNV
Germline

Chr15:89318710

Likely pathogenic

Condition: not provided
Mitochondrial disease
Progressive sclerosing poliodystrophy
not specified

Reviewed By Expert Panel

CA316764

rs_753410045

4 SubmittersRCV000188617 RCV001753589 RCV002514035 RCV004586613

NM_002693.3(POLG):c.3287G>T (p.Arg1096Leu)

SNV
Germline

Chr15:89318736

Pathogenic/Likely pathogenic

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA316762

rs_368435864

2 SubmittersRCV000188616 RCV001857637

NM_002693.3(POLG):c.3287G>A (p.Arg1096His)

SNV
Germline

Chr15:89318736

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
Inborn genetic diseases
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
POLG-Related Spectrum Disorders
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA316758

rs_368435864

9 SubmittersRCV000188614 RCV000551933 RCV002314742 RCV005003545 RCV003479051 RCV004732766

NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys)

SNV
Germline

Chr15:89318737

Likely pathogenic

Condition: not provided
Progressive sclerosing poliodystrophy
Mitochondrial disease
Abnormality of the nervous system
Childhood myocerebrohepatopathy spectrum
6 conditions
Mitochondrial DNA depletion syndrome 4b
Recessive mitochondrial ataxia syndrome
POLG-related disorder
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome

Reviewed By Expert Panel

CA316756

rs_201732356

16 SubmittersRCV000188613 RCV000758420 RCV001753588 RCV001814095 RCV001263172 RCV000762952 RCV003984830 RCV004798801 RCV003985757 RCV005252129 RCV004700573

NM_002693.3(POLG):c.3286C>G (p.Arg1096Gly)

SNV
Germline

Chr15:89318737

Pathogenic/Likely pathogenic

Condition: not provided
Mitochondrial DNA depletion syndrome
Progressive sclerosing poliodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA316754

rs_201732356

5 SubmittersRCV000188612 RCV003330555 RCV001059624

NM_002693.3(POLG):c.3167A>C (p.Glu1056Ala)

SNV
Germline

Chr15:89319037

Conflicting classifications of pathogenicity

not specified
POLG-related disorder
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA316600

rs_768571276

3 SubmittersRCV000188522 RCV004732760 RCV002517882

NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp)

SNV
Germline

Chr15:89319065

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Inborn genetic diseases
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Spinocerebellar ataxia with epilepsy
POLG-related disorder
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
6 conditions
Mitochondrial DNA depletion syndrome

Criteria Provided
Conflicting Classifications

CA316740

rs_181860632

20 SubmittersRCV000188603 RCV000633548 RCV001808470 RCV002247605 RCV002317146 RCV003483565 RCV004732764 RCV004796081 RCV005365111 RCV005418005

NM_002693.3(POLG):c.3104+8C>A

SNV
Germline

Chr15:89319220

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA316598

rs_754615624

4 SubmittersRCV000188520 RCV000526953 RCV000726786

NM_002693.3(POLG):c.3098C>T (p.Ala1033Val)

SNV
Germline

Chr15:89319234

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided
6 conditions
POLG-Related Spectrum Disorders
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Inborn genetic diseases
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Mitochondrial DNA depletion syndrome 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA316596

rs_551708243

13 SubmittersRCV000551001 RCV000710186 RCV000765239 RCV001121338 RCV001332169 RCV004955314 RCV005361098 RCV004732759

NM_002693.3(POLG):c.2982-6C>A

SNV
Germline

Chr15:89319356

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA316729

rs_796052892

2 SubmittersRCV000188596 RCV003765199

NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)

SNV
Germline

Chr15:89320857

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Spinocerebellar atrophy
Hereditary spastic paraplegia
Mitochondrial DNA depletion syndrome 4b
not specified
Inborn genetic diseases
MELAS syndrome
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
POLG-related disorder
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
6 conditions

Criteria Provided
Conflicting Classifications

CA316719

rs_201477273

22 SubmittersRCV000188591 RCV000490261 RCV000633558 RCV000984890 RCV001847830 RCV001808469 RCV002247604 RCV002317145 RCV003232987 RCV003992217 RCV004732762 RCV004796080 RCV005361099

NM_002693.3(POLG):c.2636A>G (p.Gln879Arg)

SNV
Germline

Chr15:89321223

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA316709

rs_368587966

4 SubmittersRCV000188586 RCV000758312

NM_002693.3(POLG):c.2620T>A (p.Leu874Met)

SNV
Germline

Chr15:89321239

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
Condition: not provided
Mitochondrial DNA depletion syndrome 4b
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA316707

rs_758402960

7 SubmittersRCV000188585 RCV000758311 RCV000766616 RCV003441772 RCV003985756

NM_002693.3(POLG):c.2558G>A (p.Arg853Gln)

SNV
Germline

Chr15:89321776

Pathogenic/Likely pathogenic

Condition: not provided
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Mitochondrial DNA depletion syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA316703

rs_796052888

6 SubmittersRCV000188583 RCV000758451 RCV003137764 RCV003330554

NM_002693.3(POLG):c.2554C>T (p.Arg852Cys)

SNV
Germline

Chr15:89321780

Pathogenic

Condition: not provided
Progressive sclerosing poliodystrophy
6 conditions
Intellectual disability
Hereditary spastic paraplegia
Inborn genetic diseases
POLG-Related Spectrum Disorders
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
POLG-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA316701

rs_144500145

16 SubmittersRCV000188581 RCV000633537 RCV000762953 RCV001252349 RCV001847829 RCV002517007 RCV004526636 RCV004786515 RCV005256576

NM_002693.3(POLG):c.2529A>G (p.Gln843=)

SNV
Germline

Chr15:89321805

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA316699

rs_369395629

3 SubmittersRCV000188579 RCV000798168

NM_002693.3(POLG):c.2420G>A (p.Arg807His)

SNV
Germline

Chr15:89322748

Pathogenic/Likely pathogenic

Condition: not provided
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b

Criteria Provided
Multiple Submitters
No Conflicts

CA316691

rs_796052887

5 SubmittersRCV000188575 RCV000758305 RCV005003543

NM_002693.3(POLG):c.2246T>C (p.Phe749Ser)

SNV
Germline

Chr15:89323423

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
POLG-Related Spectrum Disorders
Inborn genetic diseases
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA316685

rs_202037973

14 SubmittersRCV000188572 RCV000758416 RCV001270867 RCV002514034 RCV005008114 RCV004799198 RCV003985755

NM_002693.3(POLG):c.2207A>G (p.Asn736Ser)

SNV
Germline

Chr15:89323462

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
6 conditions
Condition: not provided
POLG-Related Spectrum Disorders
Intellectual disability
Tip-toe gait
Inborn genetic diseases
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA316678

rs_138457939

17 SubmittersRCV000188567 RCV000231376 RCV000515256 RCV000712791 RCV001119421 RCV001252353 RCV002227937 RCV002314741 RCV003985754

NM_002693.3(POLG):c.2051A>G (p.Asn684Ser)

SNV
Germline

Chr15:89324126

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided
Inborn genetic diseases
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA316660

rs_202244328

7 SubmittersRCV000820821 RCV001705036 RCV002314740 RCV003483564

NM_002693.3(POLG):c.2021G>A (p.Gly674Asp)

SNV
Germline

Chr15:89324156

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
POLG-Related Spectrum Disorders
Condition: not provided
Inborn genetic diseases
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA316585

rs_200257554

9 SubmittersRCV000188510 RCV000633561 RCV000768054 RCV001121414 RCV001721213 RCV002317140 RCV003985742

NM_002693.3(POLG):c.1943C>G (p.Pro648Arg)

SNV
Germline

Chr15:89325456

Pathogenic/Likely pathogenic

Condition: not provided
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b

Criteria Provided
Multiple Submitters
No Conflicts

CA316854

rs_796052906

6 SubmittersRCV000188671 RCV000702972 RCV002288793 RCV005008119

NM_002693.3(POLG):c.1898A>C (p.Lys633Thr)

SNV
Germline

Chr15:89325501

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
Condition: not provided
POLG-Related Spectrum Disorders
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA316852

rs_568913937

8 SubmittersRCV000188670 RCV000551532 RCV000732615 RCV001116517 RCV003985762

NM_002693.3(POLG):c.1868T>G (p.Leu623Trp)

SNV
Germline

Chr15:89325531

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA316848

rs_758438414

3 SubmittersRCV000188668 RCV001336494

NM_002693.3(POLG):c.1808T>C (p.Met603Thr)

SNV
Germline

Chr15:89325591

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
not specified

Criteria Provided
Conflicting Classifications

CA316846

rs_367610201

6 SubmittersRCV000188667 RCV001847837 RCV001814096 RCV001348402 RCV003226244

NM_002693.3(POLG):c.1716G>A (p.Trp572Ter)

SNV
Germline

Chr15:89325683

Pathogenic/Likely pathogenic

Condition: not provided
Progressive sclerosing poliodystrophy
POLG-related disorder
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b

Criteria Provided
Multiple Submitters
No Conflicts

CA316842

rs_767709505

4 SubmittersRCV000188664 RCV002517886 RCV003985761 RCV005008118

NM_002693.3(POLG):c.1599C>G (p.Cys533Trp)

SNV
Germline

Chr15:89326725

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
POLG-Related Spectrum Disorders
Condition: not provided

Criteria Provided
Conflicting Classifications

CA316646

rs_754246294

4 SubmittersRCV000188551 RCV001852488 RCV001117968 RCV003133166

NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)

SNV
Germline

Chr15:89327198

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided
Lennox-Gastaut syndrome
6 conditions
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
POLG-Related Spectrum Disorders
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Hereditary spastic paraplegia
Inborn genetic diseases
not specified
Mitochondrial disease
POLG-related disorder
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

Criteria Provided
Conflicting Classifications

CA316834

rs_145843073

25 SubmittersRCV000470781 RCV000658725 RCV000678827 RCV000763995 RCV001027840 RCV001004603 RCV001117972 RCV001330959 RCV001610504 RCV001847836 RCV002314743 RCV003230444 RCV004786516 RCV004725036 RCV004799199

NM_002693.3(POLG):c.1311C>T (p.Val437=)

SNV
Germline

Chr15:89327289

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
POLG-Related Spectrum Disorders
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA316642

rs_62640035

5 SubmittersRCV000188549 RCV000758494 RCV001119510 RCV003985751

NM_002693.3(POLG):c.1300T>C (p.Tyr434His)

SNV
Germline

Chr15:89327300

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA316826

rs_775538075

2 SubmittersRCV000188654 RCV001852491

NM_002693.3(POLG):c.1283T>C (p.Leu428Pro)

SNV
Germline

Chr15:89327317

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA316824

rs_774610098

2 SubmittersRCV001205060

NM_002693.3(POLG):c.1250+5G>T

SNV
Germline

Chr15:89328451

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA316823

rs_751221993

4 SubmittersRCV000712786 RCV000471060

NM_002693.3(POLG):c.1156C>T (p.Arg386Cys)

SNV
Germline

Chr15:89328699

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
POLG-related disorder
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b

Criteria Provided
Conflicting Classifications

CA316821

rs_199759055

12 SubmittersRCV000188650 RCV000660573 RCV000758259 RCV004732770 RCV003989500 RCV005008117

NM_002693.3(POLG):c.1060A>G (p.Asn354Asp)

SNV
Germline

Chr15:89328795

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA316890

rs_796052916

2 SubmittersRCV000188692 RCV002514038

NM_002693.3(POLG):c.1023+13T>G

SNV
Germline

Chr15:89328930

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA316641

rs_201874835

2 SubmittersRCV000188548 RCV003514325

NM_002693.3(POLG):c.915C>G (p.Ser305Arg)

SNV
Germline

Chr15:89329051

Pathogenic/Likely pathogenic

Condition: not provided
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA316819

rs_769410130

7 SubmittersRCV000188649 RCV000758271 RCV000995844 RCV001332170 RCV002372152

NM_002693.3(POLG):c.862C>T (p.Arg288Cys)

SNV
Germline

Chr15:89329104

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA316815

rs_564582352

4 SubmittersRCV000188646 RCV000768290 RCV000806434

NM_002693.3(POLG):c.830A>T (p.His277Leu)

SNV
Germline

Chr15:89330106

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial DNA depletion syndrome
Progressive sclerosing poliodystrophy
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Hereditary spastic paraplegia
Inborn genetic diseases
not specified
Tip-toe gait
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
6 conditions

Criteria Provided
Conflicting Classifications

CA316810

rs_138929605

19 SubmittersRCV000188643 RCV000616176 RCV000231645 RCV001004406 RCV001847834 RCV002514036 RCV003235111 RCV002226693 RCV005008116 RCV005396564

NM_002693.3(POLG):c.678G>C (p.Gln226His)

SNV
Germline

Chr15:89330258

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Autism
Seizure
Condition: not provided
POLG-Related Spectrum Disorders
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Inborn genetic diseases
not specified
POLG-related disorder
6 conditions

Criteria Provided
Conflicting Classifications

CA316806

rs_147282197

18 SubmittersRCV000633538 RCV000678826 RCV000710188 RCV001121513 RCV001263148 RCV001808471 RCV002362986 RCV003317141 RCV004732768 RCV005396563

NM_002693.3(POLG):c.581C>T (p.Ala194Val)

SNV
Germline

Chr15:89333174

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA316636

rs_779122022

4 SubmittersRCV000188544 RCV001044308 RCV000727522 RCV002354530

NM_002693.3(POLG):c.428C>T (p.Ala143Val)

SNV
Germline

Chr15:89333327

Pathogenic/Likely pathogenic

Progressive sclerosing poliodystrophy
POLG-Related Spectrum Disorders
Condition: not provided
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

Criteria Provided
Multiple Submitters
No Conflicts

CA316798

rs_796052899

8 SubmittersRCV000758269 RCV000779176 RCV000995420 RCV002288792

NM_002693.3(POLG):c.408C>G (p.Asp136Glu)

SNV
Germline

Chr15:89333347

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided
Inborn genetic diseases
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA316796

rs_115109291

9 SubmittersRCV000758561 RCV000514076 RCV002321762 RCV003985760

NM_002693.3(POLG):c.391T>C (p.Tyr131His)

SNV
Germline

Chr15:89333364

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Primary progressive multiple sclerosis
Mitochondrial DNA depletion syndrome
Condition: not provided
POLG-Related Spectrum Disorders
Intellectual disability
Inborn genetic diseases
POLG-related disorder
not specified
Mitochondrial disease

Criteria Provided
Conflicting Classifications

CA316634

rs_562847013

16 SubmittersRCV000469850 RCV000578205 RCV000726559 RCV001116622 RCV001252352 RCV002321761 RCV003985750 RCV003993876 RCV004786514

NM_002693.3(POLG):c.346C>T (p.Pro116Ser)

SNV
Germline

Chr15:89333409

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
6 conditions

Criteria Provided
Conflicting Classifications

CA316879

rs_771676521

3 SubmittersRCV000188686 RCV001307238 RCV002500576

NM_002693.3(POLG):c.328C>T (p.His110Tyr)

SNV
Germline

Chr15:89333427

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA316877

rs_139599587

10 SubmittersRCV000461638 RCV000727081 RCV000768048 RCV001804925 RCV002317148

NM_002693.3(POLG):c.154C>A (p.Gln52Lys)

SNV
Germline

Chr15:89333601

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided
Inborn genetic diseases
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA316623

rs_376683989

7 SubmittersRCV000758285 RCV000992680 RCV002399700 RCV003985748

NM_002693.3(POLG):c.125G>A (p.Arg42Gln)

SNV
Germline

Chr15:89333630

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
Hereditary spastic paraplegia
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA316606

rs_74382477

5 SubmittersRCV000676334 RCV000545670 RCV001847824 RCV003985745

NM_002693.3(POLG):c.116A>G (p.Gln39Arg)

SNV
Germline

Chr15:89333639

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA316602

rs_749750052

5 SubmittersRCV000188523 RCV000723678 RCV001852486

NM_002693.3(POLG):c.970C>A (p.Pro324Thr)

SNV
Germline

Chr15:89328996

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA209652

rs_2307437

6 SubmittersRCV000195076 RCV000992693 RCV000701310

NM_002693.3(POLG):c.2663G>A (p.Gly888Asp)

SNV
Germline

Chr15:89321196

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Mitochondrial disease

Criteria Provided
Conflicting Classifications

CA10583269

rs_878854560

3 SubmittersRCV000227514 RCV004786619

NM_002693.3(POLG):c.2220C>T (p.Asn740=)

SNV
Germline

Chr15:89323449

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Progressive sclerosing poliodystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7724541

rs_141538857

7 SubmittersRCV000249671 RCV000727336 RCV000539923 RCV002313981

NM_002693.3(POLG):c.1433+1G>A

SNV
Germline

Chr15:89327166

Pathogenic

Condition: not provided
Progressive sclerosing poliodystrophy
POLG-related disorder
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b

Criteria Provided
Multiple Submitters
No Conflicts

CA7724864

rs_771623994

6 SubmittersRCV000359026 RCV000758422 RCV003985766 RCV005003603

NM_002693.3(POLG):c.202C>T (p.Gln68Ter)

SNV
Germline

Chr15:89333553

Pathogenic

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10602212

rs_202039305

4 SubmittersRCV000296330 RCV000758262

NM_002693.3(POLG):c.2870C>T (p.Ala957Val)

SNV
Germline

Chr15:89320877

Pathogenic/Likely pathogenic

Condition: not provided
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA7724336

rs_753160398

6 SubmittersRCV000304218 RCV000758268 RCV005431583

NM_002693.3(POLG):c.2419C>T (p.Arg807Cys)

SNV
Germline

Chr15:89322749

Pathogenic

Condition: not provided
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
POLG-related disorder
Neonatal seizure
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive sclerosing poliodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA7724495

rs_769827124

10 SubmittersRCV000261805 RCV000547242 RCV000626194 RCV001263147 RCV004732814 RCV004819196 RCV005008229

NM_002693.3(POLG):c.925C>T (p.Arg309Cys)

SNV
Germline

Chr15:89329041

Pathogenic

Condition: not provided
Progressive sclerosing poliodystrophy
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA10603352

rs_886041592

8 SubmittersRCV000292336 RCV000985201 RCV002500971

NM_002693.3(POLG):c.2740A>C (p.Thr914Pro)

SNV
Germline

Chr15:89321007

Pathogenic/Likely pathogenic

POLG-Related Spectrum Disorders
Condition: not provided
Progressive sclerosing poliodystrophy
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Tip-toe gait
POLG-related disorder
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b

Criteria Provided
Multiple Submitters
No Conflicts

CA7724353

rs_139590686

15 SubmittersRCV000306622 RCV000321917 RCV000633543 RCV001004600 RCV001848045 RCV003985765 RCV004786646 RCV005003601

NM_002693.3(POLG):c.1850G>A (p.Arg617His)

SNV
Germline

Chr15:89325549

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7724675

rs_779961986

7 SubmittersRCV000725018 RCV000758555 RCV002519104

NM_002693.3(POLG):c.2019C>T (p.Ala673=)

SNV
Germline

Chr15:89324158

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA7724619

rs_557179508

4 SubmittersRCV000311062 RCV000758366 RCV003985767

NM_002693.3(POLG):c.2487C>T (p.Pro829=)

SNV
Germline

Chr15:89321847

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Progressive sclerosing poliodystrophy
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA7724444

rs_147563527

5 SubmittersRCV000291085 RCV000726206 RCV001087373 RCV003985768

NM_002693.3(POLG):c.501G>A (p.Pro167=)

SNV
Germline

Chr15:89333254

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA10606974

rs_886044612

2 SubmittersRCV000362221 RCV002061144

NM_002693.3(POLG):c.1269T>A (p.Thr423=)

SNV
Germline

Chr15:89327331

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA10607040

rs_886044670

2 SubmittersRCV000282461 RCV002061145

NM_002693.3(POLG):c.2157+15G>A

SNV
Germline

Chr15:89323800

Conflicting classifications of pathogenicity

POLG-Related Spectrum Disorders
not specified
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA7724574

rs_766521182

4 SubmittersRCV000259254 RCV000431288 RCV000758515

NM_002693.3(POLG):c.1905G>A (p.Pro635=)

SNV
Germline

Chr15:89325494

Conflicting classifications of pathogenicity

Condition: not provided
POLG-Related Spectrum Disorders
not specified
POLG-related disorder
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA7724665

rs_550592814

6 SubmittersRCV000732052 RCV000377537 RCV000429004 RCV003985774 RCV001482698

NM_002693.3(POLG):c.1171-11C>T

SNV
Germline

Chr15:89328546

Conflicting classifications of pathogenicity

POLG-Related Spectrum Disorders
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA10636645

rs_886051525

2 SubmittersRCV000312692 RCV003626613

NM_002693.3(POLG):c.2266-11G>C

SNV
Germline

Chr15:89322913

Conflicting classifications of pathogenicity

POLG-Related Spectrum Disorders
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA7724509

rs_747154432

2 SubmittersRCV000367320 RCV002056472

NM_002693.3(POLG):c.3549C>T (p.Val1183=)

SNV
Germline

Chr15:89317470

Conflicting classifications of pathogenicity

POLG-Related Spectrum Disorders
Progressive sclerosing poliodystrophy
Condition: not provided
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA7724100

rs_777231247

4 SubmittersRCV000296446 RCV000535127 RCV001697753 RCV003985772

NM_002693.3(POLG):c.3273+6T>A

SNV
Germline

Chr15:89318925

Conflicting classifications of pathogenicity

POLG-Related Spectrum Disorders
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA10602323

rs_886051522

3 SubmittersRCV000281171 RCV000460872

NM_002693.3(POLG):c.2481-10A>C

SNV
Germline

Chr15:89321863

Conflicting classifications of pathogenicity

POLG-Related Spectrum Disorders
Progressive sclerosing poliodystrophy
Condition: not provided
POLG-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA7724448

rs_555280530

8 SubmittersRCV000395822 RCV000468935 RCV000734135 RCV003985773 RCV004586682

NM_002693.3(POLG):c.1887C>T (p.Asp629=)

SNV
Germline

Chr15:89325512

Conflicting classifications of pathogenicity

POLG-Related Spectrum Disorders
Progressive sclerosing poliodystrophy
not specified

Criteria Provided
Conflicting Classifications

CA10602207

rs_886051524

4 SubmittersRCV000344383 RCV000758359 RCV000602628

NM_002693.3(POLG):c.-80C>T

SNV
Germline

Chr15:89333834

Conflicting classifications of pathogenicity

POLG-Related Spectrum Disorders
Progressive sclerosing poliodystrophy
Condition: not provided
Inborn genetic diseases
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA10647470

rs_3087378

6 SubmittersRCV000358599 RCV001082745 RCV000735028 RCV002522809 RCV003985775

NM_002693.3(POLG):c.1763G>A (p.Gly588Asp)

SNV
Germline

Chr15:89325636

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
not specified

Criteria Provided
Conflicting Classifications

CA10602201

rs_371334941

5 SubmittersRCV000413337 RCV000557537 RCV001805034

NM_002693.3(POLG):c.823C>T (p.Arg275Ter)

SNV
Germline

Chr15:89330113

Pathogenic

Condition: not provided
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16042905

rs_1057517803

4 SubmittersRCV000414708 RCV001865283 RCV005431647

NM_002693.3(POLG):c.3483-2A>G

SNV
Germline

Chr15:89317538

Pathogenic/Likely pathogenic

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10602278

rs_1057518035

3 SubmittersRCV000414416 RCV000758490

NM_002693.3(POLG):c.2897T>G (p.Leu966Arg)

SNV
Germline

Chr15:89320850

Pathogenic/Likely pathogenic

Condition: not provided
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
POLG-Related Spectrum Disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA7724330

rs_142347031

8 SubmittersRCV000413284 RCV000821077 RCV005010308 RCV004800399

NM_002693.3(POLG):c.409C>T (p.Gln137Ter)

SNV
Germline

Chr15:89333346

Pathogenic/Likely pathogenic

Condition: not provided
Inborn genetic diseases
Progressive sclerosing poliodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA16042970

rs_1057517891

3 SubmittersRCV000414240 RCV002318366 RCV003626616

NM_002693.3(POLG):c.3542G>A (p.Ser1181Asn)

SNV
Germline

Chr15:89317477

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome

Criteria Provided
Conflicting Classifications

CA7724101

rs_149921636

6 SubmittersRCV000416245 RCV000633559 RCV005429241

NM_002693.3(POLG):c.3480C>T (p.Thr1160=)

SNV
Germline

Chr15:89318543

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Progressive sclerosing poliodystrophy
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA16606827

rs_1057521589

4 SubmittersRCV000438460 RCV000733253 RCV002525359 RCV004732875

NM_002693.3(POLG):c.1356T>C (p.Tyr452=)

SNV
Germline

Chr15:89327244

Conflicting classifications of pathogenicity

Condition: not provided
POLG-Related Spectrum Disorders
Progressive sclerosing poliodystrophy
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA7724873

rs_3176179

7 SubmittersRCV000734331 RCV001117973 RCV001089119 RCV003985783

NM_002693.3(POLG):c.2880C>T (p.Pro960=)

SNV
Germline

Chr15:89320867

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided
Hereditary spastic paraplegia
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA7724332

rs_752500492

6 SubmittersRCV000549125 RCV000727181 RCV001848746 RCV003985778

NM_002693.3(POLG):c.2598+15T>G

SNV
Germline

Chr15:89321721

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA16607061

rs_1057520997

2 SubmittersRCV000418954 RCV002519519

NM_002693.3(POLG):c.1949+3A>G

SNV
Germline

Chr15:89325447

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16607067

rs_1057523710

2 SubmittersRCV000698969 RCV001698296

NM_002693.3(POLG):c.1789C>T (p.Arg597Trp)

SNV
Germline

Chr15:89325610

Pathogenic/Likely pathogenic

Condition: not provided
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Inborn genetic diseases
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA7724686

rs_139717885

8 SubmittersRCV000438492 RCV000758261 RCV003147454 RCV004022346 RCV005010323

NM_002693.3(POLG):c.2125C>T (p.Arg709Ter)

SNV
Germline

Chr15:89323847

Pathogenic

Condition: not provided
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10602217

rs_867038717

4 SubmittersRCV000431312 RCV005004154 RCV000758415

NM_002693.3(POLG):c.1389G>A (p.Leu463=)

SNV
Germline

Chr15:89327211

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7724866

rs_150828914

5 SubmittersRCV000726849 RCV001088782 RCV002318460

NM_002693.3(POLG):c.926G>A (p.Arg309His)

SNV
Germline

Chr15:89329040

Pathogenic

Condition: not provided
Progressive sclerosing poliodystrophy
Tip-toe gait

Criteria Provided
Multiple Submitters
No Conflicts

CA7724998

rs_780953863

9 SubmittersRCV000421279 RCV001861504 RCV003319987

NM_002693.3(POLG):c.3444C>T (p.Arg1148=)

SNV
Germline

Chr15:89318579

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA7724140

rs_374937961

6 SubmittersRCV000712802 RCV001089379 RCV003985779

NM_002693.3(POLG):c.3285C>G (p.Ser1095Arg)

SNV
Germline

Chr15:89318738

Pathogenic/Likely pathogenic

Condition: not provided
POLG-related disorder
Progressive sclerosing poliodystrophy
POLG-Related Spectrum Disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA7724170

rs_761649878

6 SubmittersRCV000441353 RCV000709798 RCV000758419 RCV003492040

NM_002693.3(POLG):c.2982-3C>T

SNV
Germline

Chr15:89319353

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA7724285

rs_538731397

2 SubmittersRCV000426083 RCV000525150

NM_002693.3(POLG):c.2149C>T (p.Leu717=)

SNV
Germline

Chr15:89323823

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided
Inborn genetic diseases
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA7724582

rs_779515404

6 SubmittersRCV000553320 RCV000731157 RCV002429363 RCV003985777

NM_002693.3(POLG):c.2121C>A (p.Asn707Lys)

SNV
Germline

Chr15:89323851

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA7724584

rs_755502359

4 SubmittersRCV000995415 RCV000758297

NM_002693.3(POLG):c.1905G>T (p.Pro635=)

SNV
Germline

Chr15:89325494

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
Condition: not provided
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA10602209

rs_550592814

6 SubmittersRCV000430127 RCV000758360 RCV000712789 RCV003985776

NM_002693.3(POLG):c.1629C>T (p.Val543=)

SNV
Germline

Chr15:89326695

Conflicting classifications of pathogenicity

not specified
POLG-Related Spectrum Disorders
Progressive sclerosing poliodystrophy
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA7724742

rs_56349446

4 SubmittersRCV000442913 RCV001116520 RCV001410765 RCV004732871

NM_002693.3(POLG):c.1588C>T (p.Leu530Phe)

SNV
Germline

Chr15:89326736

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA16607913

rs_1024469208

2 SubmittersRCV000436160 RCV003626620

NM_002693.3(POLG):c.381G>T (p.Leu127=)

SNV
Germline

Chr15:89333374

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA16607929

rs_1057524724

3 SubmittersRCV000430052 RCV001532267 RCV002522712

NM_002693.3(POLG):c.264C>G (p.Phe88Leu)

SNV
Germline

Chr15:89333491

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
POLG-Related Spectrum Disorders

Criteria Provided
Conflicting Classifications

CA7725145

rs_144439703

6 SubmittersRCV000431950 RCV000693072 RCV004701468

NM_002693.3(POLG):c.186A>G (p.Leu62=)

SNV
Germline

Chr15:89333569

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA7725165

rs_745310138

5 SubmittersRCV000726830 RCV000758358 RCV004732878

NM_002693.3(POLG):c.3519G>A (p.Leu1173=)

SNV
Germline

Chr15:89317500

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
not specified
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA10602279

rs_953889846

4 SubmittersRCV000465233 RCV000516266 RCV003985790

NM_002693.3(POLG):c.3104+2T>A

SNV
Germline

Chr15:89319226

Likely pathogenic

Condition: not provided
Progressive sclerosing poliodystrophy
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA7724257

rs_747632869

5 SubmittersRCV000483183 RCV003464028 RCV002481523

NM_002693.3(POLG):c.1874C>T (p.Pro625Leu)

SNV
Germline

Chr15:89325525

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA10602206

rs_1064794214

3 SubmittersRCV000478890 RCV000758441

NM_002693.3(POLG):c.3550G>A (p.Asp1184Asn)

SNV
Germline

Chr15:89317469

Pathogenic

Progressive sclerosing poliodystrophy
Condition: not provided
Mitochondrial disease
Inborn genetic diseases
POLG-related disorder
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b

Reviewed By Expert Panel

CA393747667

rs_1131691575

8 SubmittersRCV000814983 RCV000493626 RCV000508838 RCV002527019 RCV004732901 RCV005010403

NM_002693.3(POLG):c.3573G>T (p.Lys1191Asn)

SNV
Germline

Chr15:89317446

Likely pathogenic

Condition: not provided
Progressive sclerosing poliodystrophy
POLG-related disorder
Mitochondrial disease

Reviewed By Expert Panel

CA10602282

rs_1085307741

8 SubmittersRCV000489004 RCV000758421 RCV003985792 RCV001526408

NM_002693.3(POLG):c.1543A>G (p.Ile515Val)

SNV
Germline

Chr15:89326954

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
POLG-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA274556112

rs_748919988

5 SubmittersRCV000490068 RCV001302676 RCV004732902 RCV005462993

NM_002693.3(POLG):c.3527C>T (p.Ser1176Leu)

SNV
Germline

Chr15:89317492

Conflicting classifications of pathogenicity

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
POLG-Related Spectrum Disorders
Condition: not provided
Progressive sclerosing poliodystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7724103

rs_776031396

7 SubmittersRCV004760533 RCV001375606 RCV000493365 RCV000686358 RCV002524050

NM_002693.3(POLG):c.2799T>G (p.Ser933Arg)

SNV
Germline

Chr15:89320948

Likely pathogenic

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA7724346

rs_765916932

4 SubmittersRCV000497987 RCV000758459

NM_002693.3(POLG):c.2584G>A (p.Ala862Thr)

SNV
Germline

Chr15:89321750

Pathogenic/Likely pathogenic

Condition: not provided
Progressive sclerosing poliodystrophy
MELAS syndrome
POLG-Related Spectrum Disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA7724420

rs_778429780

6 SubmittersRCV000497335 RCV000758455 RCV003232989 RCV003330728

NM_002693.3(POLG):c.2869G>C (p.Ala957Pro)

SNV
Germline

Chr15:89320878

Pathogenic/Likely pathogenic

Condition: not provided
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA393752678

rs_121918051

6 SubmittersRCV000501672 RCV002524270 RCV005010436

NM_002693.3(POLG):c.2606G>A (p.Arg869Gln)

SNV
Germline

Chr15:89321253

Pathogenic/Likely pathogenic

not specified
Progressive sclerosing poliodystrophy
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10602235

rs_1356604153

6 SubmittersRCV000503882 RCV000758310 RCV005004195

NM_002693.3(POLG):c.1880G>A (p.Arg627Gln)

SNV
Germline

Chr15:89325519

Pathogenic/Likely pathogenic

Condition: not provided
Progressive sclerosing poliodystrophy
POLG-related disorder
POLG-Related Spectrum Disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA7724669

rs_375305567

12 SubmittersRCV000503435 RCV000660508 RCV003985793 RCV005418172

NM_002693.3(POLG):c.1761G>A (p.Pro587=)

SNV
Germline

Chr15:89325638

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7724692

rs_374805003

4 SubmittersRCV000500619 RCV000758356 RCV003133285

NM_002693.3(POLG):c.2605C>T (p.Arg869Ter)

SNV
Germline

Chr15:89321254

Pathogenic/Likely pathogenic

Progressive sclerosing poliodystrophy
Condition: not provided
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

Criteria Provided
Multiple Submitters
No Conflicts

CA7724393

rs_751376824

5 SubmittersRCV001226304 RCV000513535 RCV005010461

NM_002693.3(POLG):c.3582C>T (p.Thr1194=)

SNV
Germline

Chr15:89317437

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA492070597

rs_1555452247

2 SubmittersRCV000518106 RCV002527512

NM_002693.3(POLG):c.3498C>T (p.Tyr1166=)

SNV
Germline

Chr15:89317521

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA492070832

rs_1427798436

2 SubmittersRCV000517863 RCV002060254

NM_002693.3(POLG):c.2665G>A (p.Ala889Thr)

SNV
Germline

Chr15:89321194

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
POLG-related disorder
Inborn genetic diseases
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Mitochondrial DNA depletion syndrome

Criteria Provided
Conflicting Classifications

CA7724385

rs_763393580

9 SubmittersRCV000518474 RCV000695266 RCV000844909 RCV002438244 RCV005010475 RCV005431726

NM_002693.3(POLG):c.2027C>T (p.Ala676Val)

SNV
Germline

Chr15:89324150

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided
6 conditions
Inborn genetic diseases
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA7724615

rs_376306906

8 SubmittersRCV000552401 RCV000733276 RCV000763992 RCV002420318 RCV005621963

NM_002693.3(POLG):c.3667A>G (p.Ile1223Val)

SNV
Germline

Chr15:89316804

Conflicting classifications of pathogenicity

6 conditions
Progressive sclerosing poliodystrophy
Hereditary spastic paraplegia
not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7724040

rs_148786642

8 SubmittersRCV000765232 RCV000548544 RCV001848933 RCV003479152 RCV001591204 RCV004659089

NM_002693.3(POLG):c.1872G>A (p.Val624=)

SNV
Germline

Chr15:89325527

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
not specified
Hereditary spastic paraplegia

Criteria Provided
Conflicting Classifications

CA492289266

rs_765506021

3 SubmittersRCV000545151 RCV000609746 RCV001848932

NM_002693.3(POLG):c.1735C>T (p.Arg579Trp)

SNV
Germline

Chr15:89325664

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

Criteria Provided
Conflicting Classifications

CA7724698

rs_556925652

6 SubmittersRCV000544202 RCV001584248 RCV005004219

NM_002693.3(POLG):c.330C>T (p.His110=)

SNV
Germline

Chr15:89333425

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA274566083

rs_376266682

3 SubmittersRCV000540376 RCV000591767 RCV003985797

NM_002693.3(POLG):c.3242G>A (p.Arg1081Gln)

SNV
Germline

Chr15:89318962

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7724198

rs_140079523

7 SubmittersRCV000539421 RCV000995412 RCV002448638

NM_002693.3(POLG):c.1276G>A (p.Gly426Ser)

SNV
Germline

Chr15:89327324

Pathogenic/Likely pathogenic

Progressive sclerosing poliodystrophy
6 conditions
Mitochondrial DNA depletion syndrome
Condition: not provided
POLG-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA7724884

rs_775576189

7 SubmittersRCV000534104 RCV000763997 RCV005239152 RCV001546202 RCV004732930

NM_002693.3(POLG):c.2293C>A (p.Pro765Thr)

SNV
Germline

Chr15:89322875

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA10602222

rs_1003442806

3 SubmittersRCV000530237

NM_002693.3(POLG):c.3640C>T (p.Gln1214Ter)

SNV
Germline

Chr15:89317379

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA7724076

rs_781256643

6 SubmittersRCV000579250 RCV000758431

NM_002693.3(POLG):c.922C>T (p.Gln308Ter)

SNV
Germline

Chr15:89329044

Pathogenic/Likely pathogenic

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA393765780

rs_1555453824

2 SubmittersRCV000579146 RCV002529053

NM_002693.3(POLG):c.137A>G (p.Gln46Arg)

SNV
Germline

Chr15:89333618

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA10602190

rs_1555454339

4 SubmittersRCV000596845 RCV000758405

NM_002693.3(POLG):c.1983C>T (p.Leu661=)

SNV
Germline

Chr15:89324194

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA274550645

rs_948431638

2 SubmittersRCV000593316 RCV001445211

NM_002693.3(POLG):c.2599-10C>T

SNV
Germline

Chr15:89321270

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA7724397

rs_769346219

3 SubmittersRCV000593139 RCV000726881 RCV001442687

NM_002693.3(POLG):c.2158-10G>A

SNV
Germline

Chr15:89323521

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA658798426

rs_1555453090

2 SubmittersRCV000595109 RCV003626628

NM_002693.3(POLG):c.1950-10C>T

SNV
Germline

Chr15:89324237

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA7724637

rs_749522324

4 SubmittersRCV000592919 RCV000727031 RCV003626629

NM_002693.3(POLG):c.1648C>G (p.Gln550Glu)

SNV
Germline

Chr15:89326676

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10602199

rs_1227630175

4 SubmittersRCV000594852 RCV000758290 RCV005260235

NM_002693.3(POLG):c.522C>G (p.Gly174=)

SNV
Germline

Chr15:89333233

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary spastic paraplegia
Inborn genetic diseases
Progressive sclerosing poliodystrophy
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA7725103

rs_766842881

5 SubmittersRCV000598054 RCV001848983 RCV002341525 RCV002532480 RCV003985799

NM_002693.3(POLG):c.180A>G (p.Gln60=)

SNV
Germline

Chr15:89333575

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA492290117

rs_1555454318

2 SubmittersRCV000593861 RCV003626630

NM_002693.3(POLG):c.2994G>T (p.Ser998=)

SNV
Germline

Chr15:89319338

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA492072461

rs_567030498

3 SubmittersRCV000598074 RCV003626631 RCV004732959

NM_002693.3(POLG):c.1368G>A (p.Gln456=)

SNV
Germline

Chr15:89327232

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA492289697

rs_1555453664

2 SubmittersRCV000595864 RCV001441860

NM_002693.3(POLG):c.2808C>G (p.Ala936=)

SNV
Germline

Chr15:89320939

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA492289048

rs_1370721886

2 SubmittersRCV000593313 RCV001474476

NM_002693.3(POLG):c.1545C>T (p.Ile515=)

SNV
Germline

Chr15:89326952

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA7724813

rs_537156830

4 SubmittersRCV000727419 RCV001860211 RCV003985800

NM_002693.3(POLG):c.2264A>C (p.Lys755Thr)

SNV
Germline

Chr15:89323405

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA7724536

rs_770438363

3 SubmittersRCV000598297 RCV000758303

NM_002693.3(POLG):c.1782G>A (p.Leu594=)

SNV
Germline

Chr15:89325617

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA492289469

rs_1419141450

2 SubmittersRCV000598428 RCV005091574

NM_002693.3(POLG):c.3273+5C>T

SNV
Germline

Chr15:89318926

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA658798419

rs_1555452510

2 SubmittersRCV000607400 RCV005091621

NM_002693.3(POLG):c.3222G>T (p.Val1074=)

SNV
Germline

Chr15:89318982

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Progressive sclerosing poliodystrophy
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA7724205

rs_746773616

6 SubmittersRCV000600336 RCV000734817 RCV000758533 RCV003985803

NM_002693.3(POLG):c.2265+6T>A

SNV
Germline

Chr15:89323398

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA7724535

rs_746650160

2 SubmittersRCV001697862 RCV002531542

NM_002693.3(POLG):c.3274-4C>T

SNV
Germline

Chr15:89318753

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7724173

rs_760343963

3 SubmittersRCV000603463 RCV000861872 RCV002317370

NM_002693.3(POLG):c.659+6T>C

SNV
Germline

Chr15:89333090

Conflicting classifications of pathogenicity

not specified
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA658798418

rs_1429417228

2 SubmittersRCV000611606 RCV001860268

NM_002693.3(POLG):c.3317T>C (p.Val1106Ala)

SNV
Germline

Chr15:89318706

Likely pathogenic

Inborn genetic diseases
6 conditions
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA393750042

rs_1354582663

5 SubmittersRCV000623937 RCV000765236 RCV004546534 RCV003626635 RCV005004274 RCV004689813

NM_002693.3(POLG):c.1A>G (p.Met1Val)

SNV
Germline

Chr15:89333754

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA274566852

rs_201786897

4 SubmittersRCV000633552 RCV004791647

NM_002693.3(POLG):c.3412C>T (p.Arg1138Cys)

SNV
Germline

Chr15:89318611

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
not specified

Criteria Provided
Conflicting Classifications

CA7724146

rs_767138032

5 SubmittersRCV000676318 RCV000758475 RCV002282324

NM_022336.4(EDAR):c.265C>T (p.Arg89Cys)

SNV
Germline

Chr2:108929289

Pathogenic

Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant

Criteria Provided
Single Submitter

CA1825141

rs_780424781

2 SubmittersRCV000681479 RCV002531420

NM_002693.3(POLG):c.3151G>A (p.Gly1051Arg)

SNV
Germline

Chr15:89319053

Pathogenic/Likely pathogenic

Progressive sclerosing poliodystrophy
Inborn genetic diseases
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA7724222

rs_121918049

6 SubmittersRCV000685758 RCV003352982 RCV005010677 RCV005409716

NM_002693.3(POLG):c.1790G>A (p.Arg597Gln)

SNV
Germline

Chr15:89325609

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10602204

rs_1001570418

6 SubmittersRCV000699074 RCV001546774 RCV003230576

NM_002693.3(POLG):c.3523C>T (p.Gln1175Ter)

SNV
Germline

Chr15:89317496

Likely pathogenic

Progressive sclerosing poliodystrophy
Mitochondrial disease

Reviewed By Expert Panel

CA393747895

rs_1567184117

2 SubmittersRCV000686623 RCV001756159

NM_002693.3(POLG):c.2539G>A (p.Ala847Thr)

SNV
Germline

Chr15:89321795

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
not specified

Criteria Provided
Conflicting Classifications

CA393754454

rs_750203541

3 SubmittersRCV000712794 RCV003514401 RCV005240505

NM_002693.3(POLG):c.2287G>C (p.Gly763Arg)

SNV
Germline

Chr15:89322881

Conflicting classifications of pathogenicity

Condition: not provided
POLG-Related Spectrum Disorders
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA393756558

rs_1567187837

4 SubmittersRCV000712793 RCV001796195 RCV001861978

NM_002693.3(POLG):c.453G>A (p.Leu151=)

SNV
Germline

Chr15:89333302

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA7725110

rs_779981823

2 SubmittersRCV000712809 RCV001050958

NM_002693.3(POLG):c.3104+3A>T

SNV
Germline

Chr15:89319225

Pathogenic

Progressive sclerosing poliodystrophy
Inborn genetic diseases
Condition: not provided
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1

Criteria Provided
Multiple Submitters
No Conflicts

CA7724256

rs_778573169

8 SubmittersRCV000758418 RCV002312352 RCV003151809 RCV005010726 RCV004783847

NM_002693.3(POLG):c.3383G>A (p.Arg1128His)

SNV
Germline

Chr15:89318640

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
not specified
Mitochondrial DNA depletion syndrome 4b

Criteria Provided
Conflicting Classifications

CA10602271

rs_1405268319

9 SubmittersRCV000728455 RCV000758473 RCV003323703 RCV003992378

NM_002693.3(POLG):c.1626T>C (p.Asp542=)

SNV
Germline

Chr15:89326698

Conflicting classifications of pathogenicity

Condition: not provided
POLG-Related Spectrum Disorders
Progressive sclerosing poliodystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA274555684

rs_376576519

4 SubmittersRCV000728733 RCV001116521 RCV001476795 RCV002397503

NM_002693.3(POLG):c.237C>G (p.Leu79=)

SNV
Germline

Chr15:89333518

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA7725154

rs_774537232

3 SubmittersRCV000728944 RCV003768186 RCV004723141

NM_002693.3(POLG):c.1842C>T (p.Tyr614=)

SNV
Germline

Chr15:89325557

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA274554413

rs_62640033

5 SubmittersRCV000729059 RCV001502376 RCV003985810

NM_002693.3(POLG):c.33C>T (p.Gly11=)

SNV
Germline

Chr15:89333722

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA492290718

rs_1482684558

3 SubmittersRCV000729180 RCV000799230 RCV003985811

NM_002693.3(POLG):c.1251G>A (p.Arg417=)

SNV
Germline

Chr15:89327349

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA10602185

rs_1567191509

3 SubmittersRCV000729608 RCV000758352

NM_002693.3(POLG):c.2209G>A (p.Gly737Arg)

SNV
Germline

Chr15:89323460

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

Criteria Provided
Conflicting Classifications

CA7724543

rs_121918054

2 SubmittersRCV000729789 RCV005004391

NM_002693.3(POLG):c.2865T>C (p.Tyr955=)

SNV
Germline

Chr15:89320882

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA492288979

rs_1567186574

2 SubmittersRCV000730202 RCV003106041

NM_002693.3(POLG):c.2878C>T (p.Pro960Ser)

SNV
Germline

Chr15:89320869

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA7724333

rs_373298169

5 SubmittersRCV000730224 RCV001034291 RCV003985813

NM_002693.3(POLG):c.1977C>T (p.His659=)

SNV
Germline

Chr15:89324200

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA7724627

rs_62640030

4 SubmittersRCV000730709 RCV001455893 RCV003985814

NM_002693.3(POLG):c.2133A>G (p.Ala711=)

SNV
Germline

Chr15:89323839

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA492289351

rs_1567188446

2 SubmittersRCV000730753 RCV002535169

NM_002693.3(POLG):c.1024-1G>C

SNV
Germline

Chr15:89328832

Pathogenic/Likely pathogenic

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA393765308

rs_1567192203

2 SubmittersRCV000731007 RCV003461008

NM_002693.3(POLG):c.468G>A (p.Leu156=)

SNV
Germline

Chr15:89333287

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA492289952

rs_1567194019

2 SubmittersRCV000731067 RCV002535187

NM_002693.3(POLG):c.3630C>T (p.Tyr1210=)

SNV
Germline

Chr15:89317389

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7724082

rs_139562274

4 SubmittersRCV000732440 RCV001490953 RCV002458346

NM_002693.3(POLG):c.3468C>T (p.Thr1156=)

SNV
Germline

Chr15:89318555

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA7724137

rs_566373471

2 SubmittersRCV000732818 RCV001501052

NM_002693.3(POLG):c.3258G>A (p.Ser1086=)

SNV
Germline

Chr15:89318946

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA7724195

rs_763312940

4 SubmittersRCV000732872 RCV000758535

NM_002693.3(POLG):c.1164C>T (p.Asn388=)

SNV
Germline

Chr15:89328691

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA7724944

rs_376649412

2 SubmittersRCV000732894 RCV002536489

NM_002693.3(POLG):c.1929T>C (p.Ala643=)

SNV
Germline

Chr15:89325470

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA7724661

rs_745800212

3 SubmittersRCV000732926 RCV001421051

NM_002693.3(POLG):c.129G>A (p.Gln43=)

SNV
Germline

Chr15:89333626

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA7725199

rs_570989155

4 SubmittersRCV000733088 RCV001398848 RCV003985815

NM_002693.3(POLG):c.3024G>A (p.Leu1008=)

SNV
Germline

Chr15:89319308

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA7724267

rs_139488968

2 SubmittersRCV000733358 RCV001455433

NM_002693.3(POLG):c.3643+2T>C

SNV
Germline

Chr15:89317374

Pathogenic

Progressive sclerosing poliodystrophy
Condition: not provided
6 conditions
Mitochondrial disease

Reviewed By Expert Panel

CA393747166

rs_1335880349

4 SubmittersRCV001037377 RCV000734043 RCV002507306 RCV001526407

NM_002693.3(POLG):c.3012G>T (p.Leu1004=)

SNV
Germline

Chr15:89319320

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA7724273

rs_989355152

2 SubmittersRCV000734085 RCV002535364

NM_002693.3(POLG):c.423C>T (p.Leu141=)

SNV
Germline

Chr15:89333332

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA7725114

rs_761417163

3 SubmittersRCV000734091 RCV002332534 RCV003768241

NM_002693.3(POLG):c.160C>T (p.Gln54Ter)

SNV
Germline

Chr15:89333595

Pathogenic/Likely pathogenic

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA7725179

rs_774768199

3 SubmittersRCV000735156 RCV003461011

NM_002693.3(POLG):c.3614G>C (p.Gly1205Ala)

SNV
Germline

Chr15:89317405

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA7724084

rs_772737979

3 SubmittersRCV000758335 RCV003985818

NM_002693.3(POLG):c.3562T>C (p.Cys1188Arg)

SNV
Germline

Chr15:89317457

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA10602280

rs_754844175

1 SubmittersRCV000758330

NM_002693.3(POLG):c.3526T>C (p.Ser1176Pro)

SNV
Germline

Chr15:89317493

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7724104

rs_763205408

3 SubmittersRCV000758329 RCV005422953

NM_002693.3(POLG):c.3472C>A (p.Leu1158Ile)

SNV
Germline

Chr15:89318551

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA10602277

rs_1278715599

2 SubmittersRCV000758479

NM_002693.3(POLG):c.3338T>C (p.Leu1113Pro)

SNV
Germline

Chr15:89318685

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA10602269

rs_1567185178

1 SubmittersRCV000758472

NM_002693.3(POLG):c.3242G>C (p.Arg1081Pro)

SNV
Germline

Chr15:89318962

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA10602264

rs_140079523

1 SubmittersRCV000758466

NM_002693.3(POLG):c.3241C>T (p.Arg1081Ter)

SNV
Germline

Chr15:89318963

Pathogenic

Progressive sclerosing poliodystrophy
Mitochondrial disease
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7724199

rs_767708989

4 SubmittersRCV000758278 RCV004788155 RCV004797867

NM_002693.3(POLG):c.3229T>G (p.Cys1077Gly)

SNV
Germline

Chr15:89318975

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
POLG-Related Spectrum Disorders

Criteria Provided
Conflicting Classifications

CA10602262

rs_1567185468

3 SubmittersRCV000758324 RCV001121334

NM_002693.3(POLG):c.3067C>T (p.Gln1023Ter)

SNV
Germline

Chr15:89319265

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA10602254

rs_1567185770

1 SubmittersRCV000758275

NM_002693.3(POLG):c.2858G>A (p.Arg953His)

SNV
Germline

Chr15:89320889

Likely pathogenic

Progressive sclerosing poliodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10602247

rs_1567186581

4 SubmittersRCV000758462 RCV005051824

NM_002693.3(POLG):c.2854G>A (p.Gly952Ser)

SNV
Germline

Chr15:89320893

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA10602246

rs_531744363

2 SubmittersRCV000758461

NM_002693.3(POLG):c.2851T>A (p.Tyr951Asn)

SNV
Germline

Chr15:89320896

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA10602245

rs_1567186591

1 SubmittersRCV000758460

NM_002693.3(POLG):c.2828G>A (p.Arg943His)

SNV
Germline

Chr15:89320919

Pathogenic

Progressive sclerosing poliodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10602243

rs_1567186613

5 SubmittersRCV000758265 RCV000992686

NM_002693.3(POLG):c.2827C>T (p.Arg943Cys)

SNV
Germline

Chr15:89320920

Pathogenic/Likely pathogenic

Progressive sclerosing poliodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10602242

rs_1567186614

3 SubmittersRCV000758264 RCV001546612

NM_002693.3(POLG):c.2698G>A (p.Ala900Thr)

SNV
Germline

Chr15:89321161

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA10602240

rs_935602068

1 SubmittersRCV000758457

NM_002693.3(POLG):c.2662G>A (p.Gly888Ser)

SNV
Germline

Chr15:89321197

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA10602237

rs_1567186787

1 SubmittersRCV000758316

NM_002693.3(POLG):c.2657T>C (p.Leu886Pro)

SNV
Germline

Chr15:89321202

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA7724386

rs_769210629

2 SubmittersRCV000758315

NM_002693.3(POLG):c.2589C>G (p.Ser863Arg)

SNV
Germline

Chr15:89321745

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA10602234

rs_1567187057

1 SubmittersRCV000758309

NM_002693.3(POLG):c.2573C>T (p.Thr858Ile)

SNV
Germline

Chr15:89321761

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7724424

rs_759128787

5 SubmittersRCV000758454 RCV001536256 RCV004768628 RCV002424756

NM_002693.3(POLG):c.2564T>C (p.Val855Ala)

SNV
Germline

Chr15:89321770

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10602233

rs_963553787

4 SubmittersRCV000758453 RCV003225118 RCV005431914

NM_002693.3(POLG):c.2563G>T (p.Val855Leu)

SNV
Germline

Chr15:89321771

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7724425

rs_771254207

4 SubmittersRCV000758452 RCV000995414 RCV005240536

NM_002693.3(POLG):c.2555G>A (p.Arg852His)

SNV
Germline

Chr15:89321779

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10602232

rs_1567187093

2 SubmittersRCV000758450

NM_002693.3(POLG):c.2551A>G (p.Thr851Ala)

SNV
Germline

Chr15:89321783

Pathogenic/Likely pathogenic

Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7724427

rs_775445970

4 SubmittersRCV000758417 RCV004702394 RCV004997263

NM_002693.3(POLG):c.2262C>G (p.His754Gln)

SNV
Germline

Chr15:89323407

Likely pathogenic

Progressive sclerosing poliodystrophy
POLG-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10602220

rs_1567188178

3 SubmittersRCV000758302 RCV004723155

NM_002693.3(POLG):c.2143C>T (p.Gln715Ter)

SNV
Germline

Chr15:89323829

Pathogenic

Progressive sclerosing poliodystrophy
6 conditions
POLG-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10602219

rs_1254855971

5 SubmittersRCV000758425 RCV002500980 RCV004733039 RCV005235478

NM_002693.3(POLG):c.1862G>A (p.Gly621Asp)

SNV
Germline

Chr15:89325537

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
not specified

Criteria Provided
Conflicting Classifications

CA10602205

rs_1567190247

3 SubmittersRCV000758440 RCV005407941

NM_002693.3(POLG):c.1789C>G (p.Arg597Gly)

SNV
Germline

Chr15:89325610

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10602203

rs_139717885

2 SubmittersRCV000758439

NM_002693.3(POLG):c.1721G>A (p.Arg574Gln)

SNV
Germline

Chr15:89325678

Pathogenic/Likely pathogenic

Progressive sclerosing poliodystrophy
POLG-related disorder
Condition: not provided
POLG-Related Spectrum Disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA7724701

rs_764287987

7 SubmittersRCV000758294 RCV000791102 RCV001585689 RCV005418332

NM_002693.3(POLG):c.1418T>C (p.Leu473Pro)

SNV
Germline

Chr15:89327182

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA393761544

rs_1567191334

2 SubmittersRCV000758283 RCV005463121

NM_002693.3(POLG):c.1345C>T (p.Gln449Ter)

SNV
Germline

Chr15:89327255

Pathogenic

Progressive sclerosing poliodystrophy
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10602189

rs_1567191417

4 SubmittersRCV000758273 RCV005004399

NM_002693.3(POLG):c.1289T>C (p.Met430Thr)

SNV
Germline

Chr15:89327311

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA10602187

rs_1567191474

1 SubmittersRCV000758436

NM_002693.3(POLG):c.1120C>T (p.Arg374Ter)

SNV
Germline

Chr15:89328735

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10602180

rs_960142425

2 SubmittersRCV000758414

NM_002693.3(POLG):c.955A>G (p.Lys319Glu)

SNV
Germline

Chr15:89329011

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA7724993

rs_766465907

2 SubmittersRCV000758272

NM_002693.3(POLG):c.824G>A (p.Arg275Gln)

SNV
Germline

Chr15:89330112

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

Criteria Provided
Conflicting Classifications

CA10602300

rs_1555453950

4 SubmittersRCV000758488 RCV005004402

NM_002693.3(POLG):c.705G>A (p.Trp235Ter)

SNV
Germline

Chr15:89330231

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA10602297

rs_1567192879

1 SubmittersRCV000758270

NM_002693.3(POLG):c.470T>C (p.Leu157Pro)

SNV
Germline

Chr15:89333285

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA10602290

rs_1567194013

1 SubmittersRCV000758480

NM_002693.3(POLG):c.248T>C (p.Leu83Pro)

SNV
Germline

Chr15:89333507

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA10602229

rs_1567194243

1 SubmittersRCV000758448

NM_002693.3(POLG):c.3273+8G>A

SNV
Germline

Chr15:89318923

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA7724191

rs_776468044

2 SubmittersRCV000758468

NM_002693.3(POLG):c.3104+1G>A

SNV
Germline

Chr15:89319227

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided
Inborn genetic diseases
6 conditions

Criteria Provided
Conflicting Classifications

CA10602255

rs_138917386

8 SubmittersRCV000758276 RCV001546677 RCV005260379 RCV002500979

NM_002693.3(POLG):c.2480+1G>A

SNV
Germline

Chr15:89321961

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10602319

rs_1567187326

2 SubmittersRCV000758428

NM_002693.3(POLG):c.2426+1G>C

SNV
Germline

Chr15:89322741

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA10602226

rs_1567187745

1 SubmittersRCV000758427

NM_002693.3(POLG):c.2070+1G>A

SNV
Germline

Chr15:89324106

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA10602215

rs_1567188588

1 SubmittersRCV000758424

NM_002693.3(POLG):c.1713-4G>A

SNV
Germline

Chr15:89325690

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA7724705

rs_201857960

2 SubmittersRCV000758293

NM_002693.3(POLG):c.2591A>T (p.Asn864Ile)

SNV
Germline

Chr15:89321743

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA393754168

rs_121918050

2 SubmittersRCV000795150

NM_002693.3(POLG):c.1198G>A (p.Val400Met)

SNV
Germline

Chr15:89328508

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1

Criteria Provided
Conflicting Classifications

CA7724919

rs_529639381

2 SubmittersRCV000812598 RCV003882733

NM_002693.3(POLG):c.660G>A (p.Trp220Ter)

SNV
Germline

Chr15:89330276

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393767397

rs_1596360430

1 SubmittersRCV000803087

NM_002693.3(POLG):c.2598+2T>C

SNV
Germline

Chr15:89321734

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393754116

rs_1596352762

1 SubmittersRCV000792937

NM_002693.3(POLG):c.2665G>C (p.Ala889Pro)

SNV
Germline

Chr15:89321194

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393753749

rs_763393580

1 SubmittersRCV000855760

NM_002693.3(POLG):c.2310C>A (p.Phe770Leu)

SNV
Germline

Chr15:89322858

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393756505

rs_755315398

1 SubmittersRCV000855756

NM_002693.3(POLG):c.75G>A (p.Trp25Ter)

SNV
Germline

Chr15:89333680

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA274566757

rs_1021719232

1 SubmittersRCV000855758

NM_002693.3(POLG):c.484C>T (p.Leu162=)

SNV
Germline

Chr15:89333271

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided
Hereditary spastic paraplegia
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA7725108

rs_375445567

4 SubmittersRCV000867916 RCV001692304 RCV001847075 RCV003985829

NM_002693.3(POLG):c.844T>G (p.Tyr282Asp)

SNV
Germline

Chr15:89330092

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

Criteria Provided
Conflicting Classifications

CA10602301

rs_1290567099

5 SubmittersRCV000992691 RCV000989379 RCV002468611 RCV005012416

NM_002693.3(POLG):c.730C>G (p.Leu244Val)

SNV
Germline

Chr15:89330206

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
6 conditions

Criteria Provided
Conflicting Classifications

CA7725052

rs_367959489

2 SubmittersRCV001068503 RCV002480430

NM_002693.3(POLG):c.2981+2T>G

SNV
Germline

Chr15:89320764

Likely pathogenic

Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1

Criteria Provided
Multiple Submitters
No Conflicts

CA7724313

rs_775260762

3 SubmittersRCV001065150 RCV003514462

NM_002693.3(POLG):c.868C>T (p.Arg290Cys)

SNV
Germline

Chr15:89329098

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Progressive sclerosing poliodystrophy
Hereditary spastic paraplegia
Mitochondrial DNA depletion syndrome
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b

Criteria Provided
Conflicting Classifications

CA7725010

rs_753416225

8 SubmittersRCV001093440 RCV002554873 RCV002555968 RCV001847155 RCV003155359 RCV005005036

NM_002693.3(POLG):c.3151G>T (p.Gly1051Trp)

SNV
Germline

Chr15:89319053

Conflicting classifications of pathogenicity

POLG-Related Spectrum Disorders
6 conditions
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7724223

rs_121918049

5 SubmittersRCV001121336 RCV002491375 RCV001856597 RCV002466625 RCV003322852

NM_002693.3(POLG):c.2988G>A (p.Arg996=)

SNV
Germline

Chr15:89319344

Conflicting classifications of pathogenicity

POLG-Related Spectrum Disorders
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA492072501

rs_2055360184

2 SubmittersRCV001116415 RCV003626669

NM_002693.3(POLG):c.2040G>A (p.Leu680=)

SNV
Germline

Chr15:89324137

Conflicting classifications of pathogenicity

POLG-Related Spectrum Disorders
Condition: not provided
Progressive sclerosing poliodystrophy
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA7724612

rs_367740265

4 SubmittersRCV001121413 RCV001638040 RCV001410772 RCV003985837

NM_002693.3(POLG):c.1062C>T (p.Asn354=)

SNV
Germline

Chr15:89328793

Conflicting classifications of pathogenicity

POLG-Related Spectrum Disorders
Progressive sclerosing poliodystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7724960

rs_778662837

3 SubmittersRCV001119514 RCV001396114 RCV002411636

NM_002693.3(POLG):c.3408G>C (p.Glu1136Asp)

SNV
Germline

Chr15:89318615

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7724148

rs_755725702

4 SubmittersRCV001586050 RCV001206861 RCV004526814 RCV002561238

NM_002693.3(POLG):c.1252T>C (p.Cys418Arg)

SNV
Germline

Chr15:89327348

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Neurodevelopmental delay
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

Criteria Provided
Conflicting Classifications

CA7724888

rs_758112770

3 SubmittersRCV001208687 RCV002274145 RCV005012609

NM_002693.3(POLG):c.1251-2A>G

SNV
Germline

Chr15:89327351

Pathogenic

Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

Criteria Provided
Single Submitter

CA393762953

rs_2055536585

2 SubmittersRCV001202188 RCV004768907

NM_002693.3(POLG):c.172C>T (p.Gln58Ter)

SNV
Germline

Chr15:89333583

Pathogenic/Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA393773931

rs_2055625602

2 SubmittersRCV001233059

NM_002693.3(POLG):c.3152G>A (p.Gly1051Glu)

SNV
Germline

Chr15:89319052

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393750991

rs_775248939

1 SubmittersRCV001240587

NM_002693.3(POLG):c.1947C>A (p.Tyr649Ter)

SNV
Germline

Chr15:89325452

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393758895

rs_1465650547

1 SubmittersRCV001244608

NM_002693.3(POLG):c.3296G>A (p.Trp1099Ter)

SNV
Unknown

Chr15:89318727

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393750166

rs_2055345819

1 SubmittersRCV001262612

NM_002693.3(POLG):c.1780C>T (p.Leu594=)

SNV
Germline

Chr15:89325619

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA7724688

rs_778172428

3 SubmittersRCV001289152 RCV002070095

NM_002693.3(POLG):c.1171-10C>G

SNV
Germline

Chr15:89328545

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA1139664123

rs_1228287579

2 SubmittersRCV001289150 RCV003626672

NM_002693.3(POLG):c.726T>A (p.Ala242=)

SNV
Germline

Chr15:89330210

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Conflicting Classifications

CA492080653

rs_2055576134

2 SubmittersRCV001287899 RCV003626671

NM_002693.3(POLG):c.722C>T (p.Pro241Leu)

SNV
Germline

Chr15:89330214

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA393767074

rs_1452571273

2 SubmittersRCV001326765 RCV004793428

NM_002693.3(POLG):c.1586-1G>A

SNV
Germline

Chr15:89326739

Likely pathogenic

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA393760685

rs_2055524549

2 SubmittersRCV001780251 RCV001332165

NM_002693.3(POLG):c.2566G>A (p.Glu856Lys)

SNV
Germline

Chr15:89321768

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided
not specified
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b

Criteria Provided
Conflicting Classifications

CA274547255

rs_1032930719

5 SubmittersRCV001336496 RCV002466665 RCV005408842 RCV005005832

NM_002693.3(POLG):c.1950-10C>A

SNV
Germline

Chr15:89324237

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA619857361

rs_749522324

2 SubmittersRCV001339811 RCV001664840

NM_002693.3(POLG):c.2982-9T>G

SNV
Germline

Chr15:89319359

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7724286

rs_774707044

2 SubmittersRCV001358833 RCV001550432

NM_002693.3(POLG):c.2585C>T (p.Ala862Val)

SNV
Germline

Chr15:89321749

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393754204

rs_2152061668

1 SubmittersRCV001367160

NM_002693.3(POLG):c.268C>T (p.Gln90Ter)

SNV
Germline

Chr15:89333487

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393773171

rs_1473911378

1 SubmittersRCV001390462

NM_002693.3(POLG):c.3522C>T (p.Pro1174=)

SNV
Germline

Chr15:89317497

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7724106

rs_751676137

2 SubmittersRCV001492799 RCV003481114

NM_002693.3(POLG):c.2862C>G (p.Ile954Met)

SNV
Germline

Chr15:89320885

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
not specified

Criteria Provided
Conflicting Classifications

CA393752726

rs_2152060967

3 SubmittersRCV001563093 RCV003626675 RCV003388026

NM_002693.3(POLG):c.163C>T (p.Gln55Ter)

SNV
Germline

Chr15:89333592

Pathogenic/Likely pathogenic

Condition: not provided
Progressive sclerosing poliodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA393774032

rs_2055626123

2 SubmittersRCV001582267 RCV003626676

NM_002693.3(POLG):c.1251-5C>T

SNV
Germline

Chr15:89327354

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA7724891

rs_199621975

4 SubmittersRCV001590746 RCV003514513 RCV003985850

NM_002693.3(POLG):c.660-2A>G

SNV
Germline

Chr15:89330278

Pathogenic/Likely pathogenic

Condition: not provided
Progressive sclerosing poliodystrophy
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

Criteria Provided
Multiple Submitters
No Conflicts

CA393767410

rs_2141806882

4 SubmittersRCV001824510 RCV003626691 RCV005006083

NM_002693.3(POLG):c.1783C>T (p.Gln595Ter)

SNV
Germline

Chr15:89325616

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393759373

rs_2152065937

1 SubmittersRCV001943891

NM_002693.3(POLG):c.2266-1G>A

SNV
Germline

Chr15:89322903

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393756613

rs_2152062443

1 SubmittersRCV001970249

NM_002693.3(POLG):c.3347T>G (p.Met1116Arg)

SNV
Germline

Chr15:89318676

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA393749929

rs_764036283

2 SubmittersRCV001880495 RCV004809683

NM_002693.3(POLG):c.624C>A (p.Cys208Ter)

SNV
Germline

Chr15:89333131

Pathogenic/Likely pathogenic

Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

Criteria Provided
Multiple Submitters
No Conflicts

CA393770323

rs_1159974816

2 SubmittersRCV001918974 RCV003502611

NM_002693.3(POLG):c.3574G>T (p.Glu1192Ter)

SNV
Germline

Chr15:89317445

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393747463

rs_2055309922

1 SubmittersRCV001925518

NM_002693.3(POLG):c.1950-2A>G

SNV
Germline

Chr15:89324229

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393757928

rs_2152063472

1 SubmittersRCV002000611

NM_002693.3(POLG):c.2217C>A (p.Tyr739Ter)

SNV
Germline

Chr15:89323452

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA7724542

rs_750514687

1 SubmittersRCV001917522

NM_002693.3(POLG):c.1709C>T (p.Pro570Leu)

SNV
Germline

Chr15:89326615

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7724729

rs_780695124

2 SubmittersRCV001881743 RCV002307782

NM_002693.3(POLG):c.846C>G (p.Tyr282Ter)

SNV
Germline

Chr15:89330090

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393766544

rs_2152068651

1 SubmittersRCV001912854

NM_002693.3(POLG):c.907G>A (p.Gly303Arg)

SNV
Germline

Chr15:89329059

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA7725001

rs_749799663

1 SubmittersRCV001957402

NM_002693.3(POLG):c.1720C>T (p.Arg574Trp)

SNV
Germline

Chr15:89325679

Pathogenic

Progressive sclerosing poliodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7724702

rs_774474723

3 SubmittersRCV002007520 RCV003322908

NM_002693.3(POLG):c.3482+2T>C

SNV
Germline

Chr15:89318539

Pathogenic/Likely pathogenic

Progressive sclerosing poliodystrophy
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b

Criteria Provided
Multiple Submitters
No Conflicts

CA393749637

rs_1466226819

4 SubmittersRCV001939367 RCV005006313

NM_002693.3(POLG):c.1035G>A (p.Trp345Ter)

SNV
Germline

Chr15:89328820

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393765237

rs_2152067996

1 SubmittersRCV001877576

NM_002693.3(POLG):c.3273+17G>A

SNV
Germline

Chr15:89318914

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
6 conditions

Criteria Provided
Conflicting Classifications

CA7724188

rs_368578878

2 SubmittersRCV001905637 RCV002482668

NM_002693.3(POLG):c.1457G>A (p.Trp486Ter)

SNV
Germline

Chr15:89327040

Pathogenic

Progressive sclerosing poliodystrophy
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b

Criteria Provided
Multiple Submitters
No Conflicts

CA393761144

rs_2055531147

2 SubmittersRCV001970028 RCV003490974

NM_002693.3(POLG):c.1433+2T>C

SNV
Germline

Chr15:89327165

Pathogenic/Likely pathogenic

Progressive sclerosing poliodystrophy
POLG-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA274556533

rs_920850257

3 SubmittersRCV001956083 RCV004698864

NM_002693.3(POLG):c.2753G>A (p.Trp918Ter)

SNV
Germline

Chr15:89320994

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393753283

rs_2152061062

1 SubmittersRCV001927899

NM_002693.3(POLG):c.3589T>C (p.Cys1197Arg)

SNV
Germline

Chr15:89317430

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA393747407

rs_1426811174

2 SubmittersRCV002042237 RCV002255694

NM_002693.3(POLG):c.3328C>T (p.His1110Tyr)

SNV
Germline

Chr15:89318695

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
not specified

Criteria Provided
Conflicting Classifications

CA393749974

rs_2152058760

4 SubmittersRCV002027135 RCV005406273

NM_002693.3(POLG):c.368T>G (p.Val123Gly)

SNV
Germline

Chr15:89333387

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393772269

rs_2509275684

1 SubmittersRCV002292198

NM_002693.3(POLG):c.3104+1G>T

SNV
Germline

Chr15:89319227

Likely pathogenic

Inborn genetic diseases
Progressive sclerosing poliodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA393751242

rs_138917386

2 SubmittersRCV002326010 RCV003514555

NM_002693.3(POLG):c.2488G>A (p.Asp830Asn)

SNV
Germline

Chr15:89321846

Conflicting classifications of pathogenicity

Inborn genetic diseases
Progressive sclerosing poliodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7724443

rs_760641207

3 SubmittersRCV002430885 RCV003101877 RCV002473384

NM_002693.3(POLG):c.2639C>A (p.Ala880Asp)

SNV
Germline

Chr15:89321220

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
not specified

Criteria Provided
Conflicting Classifications

CA393753827

rs_1378786011

3 SubmittersRCV002475510 RCV003514593 RCV005433230

NM_002693.3(POLG):c.2265+1G>A

SNV
Germline

Chr15:89323403

Conflicting classifications of pathogenicity

Condition: not provided
Progressive sclerosing poliodystrophy
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA393756621

rs_796052884

3 SubmittersRCV002475511 RCV002571546 RCV003985873

NM_002693.3(POLG):c.2629A>G (p.Met877Val)

SNV
Germline

Chr15:89321230

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

Criteria Provided
Conflicting Classifications

CA7724391

rs_754025885

2 SubmittersRCV002574468 RCV005233091

NM_002693.3(POLG):c.2341G>A (p.Ala781Thr)

SNV
Germline

Chr15:89322827

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
not specified
POLG-related disorder

Criteria Provided
Conflicting Classifications

CA7724501

rs_575660501

3 SubmittersRCV002587906 RCV003491250 RCV003985876

NM_002693.3(POLG):c.3305A>C (p.Gln1102Pro)

SNV
Germline

Chr15:89318718

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393750112

rs_2509203709

1 SubmittersRCV002617170

NM_002693.3(POLG):c.178C>T (p.Gln60Ter)

SNV
Germline

Chr15:89333577

Pathogenic/Likely pathogenic

Progressive sclerosing poliodystrophy
Condition: not provided
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

Criteria Provided
Multiple Submitters
No Conflicts

CA393773862

rs_780379693

4 SubmittersRCV002715795 RCV003482419 RCV005008709

NM_002693.3(POLG):c.3551A>G (p.Asp1184Gly)

SNV
Germline

Chr15:89317468

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA274539527

rs_376761578

2 SubmittersRCV002706023 RCV004725362

NM_002693.3(POLG):c.3400C>T (p.His1134Tyr)

SNV
Germline

Chr15:89318623

Likely pathogenic

Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA393749807

rs_2509202643

2 SubmittersRCV002740529 RCV005239496

NM_002693.3(POLG):c.2084A>G (p.Asp695Gly)

SNV
Germline

Chr15:89323888

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA393757290

rs_1427384868

2 SubmittersRCV002770374 RCV002800068

NM_002693.3(POLG):c.229C>T (p.Gln77Ter)

SNV
Germline

Chr15:89333526

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393773418

rs_2509276392

1 SubmittersRCV002824674

NM_002693.3(POLG):c.2666C>T (p.Ala889Val)

SNV
Germline

Chr15:89321193

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393753743

rs_1232362461

1 SubmittersRCV002866545

NM_002693.3(POLG):c.1837C>G (p.His613Asp)

SNV
Germline

Chr15:89325562

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

Criteria Provided
Conflicting Classifications

CA393759261

rs_147407423

2 SubmittersRCV002917155 RCV005233032

NM_002693.3(POLG):c.659+1G>T

SNV
Germline

Chr15:89333095

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393770103

rs_1348641548

1 SubmittersRCV002909910

NM_002693.3(POLG):c.1400C>A (p.Ala467Asp)

SNV
Germline

Chr15:89327200

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
not specified

Criteria Provided
Conflicting Classifications

CA393761699

rs_2509255963

2 SubmittersRCV002949674 RCV004765610

NM_002693.3(POLG):c.3304C>T (p.Gln1102Ter)

SNV
Germline

Chr15:89318719

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393750120

rs_2509203728

1 SubmittersRCV003019300

NM_002693.3(POLG):c.2797A>C (p.Ser933Arg)

SNV
Germline

Chr15:89320950

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393753079

rs_2509217516

1 SubmittersRCV003055508

NM_002693.3(POLG):c.1202G>A (p.Trp401Ter)

SNV
Unknown

Chr15:89328504

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393764129

rs_2509260328

1 SubmittersRCV003463326

NM_002693.3(POLG):c.895A>C (p.Met299Leu)

SNV
Germline

Chr15:89329071

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
not specified

Criteria Provided
Conflicting Classifications

CA393765934

rs_140262282

2 SubmittersRCV003471714 RCV005433396

NM_002693.3(POLG):c.3643+1G>A

SNV
Germline

Chr15:89317375

Pathogenic/Likely pathogenic

Progressive sclerosing poliodystrophy
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA393747172

rs_1326779034

3 SubmittersRCV003463330 RCV005356445

NM_002693.3(POLG):c.1250G>C (p.Arg417Thr)

SNV
Unknown

Chr15:89328456

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393763931

rs_2509260144

1 SubmittersRCV003463331

NM_002693.3(POLG):c.2480+2T>C

SNV
Germline

Chr15:89321960

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA393754890

rs_2509223240

2 SubmittersRCV003471715

NM_002693.3(POLG):c.3311C>G (p.Ser1104Cys)

SNV
Germline

Chr15:89318712

Pathogenic/Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA393750072

rs_1010372555

2 SubmittersRCV003463336

NM_002693.3(POLG):c.1356T>G (p.Tyr452Ter)

SNV
Germline

Chr15:89327244

Pathogenic

Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

Criteria Provided
Multiple Submitters
No Conflicts

CA393762089

rs_3176179

2 SubmittersRCV003471718 RCV005003644

NM_002693.3(POLG):c.1360G>T (p.Glu454Ter)

SNV
Unknown

Chr15:89327240

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393762039

rs_2509256107

1 SubmittersRCV003471720

NM_002693.3(POLG):c.2070+2T>G

SNV
Unknown

Chr15:89324105

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393757382

rs_2509233602

1 SubmittersRCV003463341

NM_002693.3(POLG):c.1251-2A>T

SNV
Germline

Chr15:89327351

Pathogenic/Likely pathogenic

Progressive sclerosing poliodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA393762951

rs_2055536585

3 SubmittersRCV003463342 RCV005052054

NM_002693.3(POLG):c.2426+1G>A

SNV
Germline

Chr15:89322741

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393756156

rs_1567187745

1 SubmittersRCV003514674

NM_002693.3(POLG):c.2798G>A (p.Ser933Asn)

SNV
Germline

Chr15:89320949

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393753074

rs_1596352071

1 SubmittersRCV003514676

NM_002693.3(POLG):c.1433+1G>C

SNV
Germline

Chr15:89327166

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393761455

rs_771623994

1 SubmittersRCV003514766

NM_002693.3(POLG):c.2981+1G>C

SNV
Germline

Chr15:89320765

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393752110

rs_2509216493

1 SubmittersRCV003515308

NM_002693.3(POLG):c.2456C>A (p.Ser819Ter)

SNV
Germline

Chr15:89321986

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393754967

rs_2509223374

1 SubmittersRCV003515534

NM_002693.3(POLG):c.136C>T (p.Gln46Ter)

SNV
Germline

Chr15:89333619

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393774410

rs_2055628382

1 SubmittersRCV003515570

NM_002693.3(POLG):c.3268G>T (p.Glu1090Ter)

SNV
Germline

Chr15:89318936

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393750411

rs_759284625

1 SubmittersRCV003514195

NM_002693.3(POLG):c.2789A>G (p.Asp930Gly)

SNV
Germline

Chr15:89320958

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393753111

rs_2509217554

1 SubmittersRCV003514205

NM_002693.3(POLG):c.3316G>A (p.Val1106Ile)

SNV
Germline

Chr15:89318707

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393750052

rs_1567185212

1 SubmittersRCV003516366

NM_002693.3(POLG):c.2788G>A (p.Asp930Asn)

SNV
Germline

Chr15:89320959

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393753119

rs_2055386406

1 SubmittersRCV003516367

NM_002693.3(POLG):c.2740A>G (p.Thr914Ala)

SNV
Germline

Chr15:89321007

Likely pathogenic

Progressive sclerosing poliodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA393753337

rs_139590686

2 SubmittersRCV003516368 RCV005052059

NM_002693.3(POLG):c.2420G>C (p.Arg807Pro)

SNV
Germline

Chr15:89322748

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393756188

rs_796052887

1 SubmittersRCV003516369

NM_002693.3(POLG):c.1874C>G (p.Pro625Arg)

SNV
Germline

Chr15:89325525

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393759180

rs_1064794214

1 SubmittersRCV003516371

NM_002693.3(POLG):c.2341G>C (p.Ala781Pro)

SNV
Germline

Chr15:89322827

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA393756436

rs_575660501

2 SubmittersRCV003514865 RCV004698885

NM_002693.3(POLG):c.2680C>T (p.Gln894Ter)

SNV
Germline

Chr15:89321179

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393753676

rs_2509218972

1 SubmittersRCV003514888

NM_002693.3(POLG):c.2982-1G>A

SNV
Germline

Chr15:89319351

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393751502

rs_1064793493

1 SubmittersRCV003515250

NM_002693.3(POLG):c.1860G>A (p.Trp620Ter)

SNV
Germline

Chr15:89325539

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393759208

rs_2509248765

1 SubmittersRCV003514905

NM_002693.3(POLG):c.935G>A (p.Trp312Ter)

SNV
Germline

Chr15:89329031

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393765727

rs_2509262236

1 SubmittersRCV003515259

NM_002693.3(POLG):c.1796C>T (p.Thr599Ile)

SNV
Germline

Chr15:89325603

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393759347

rs_2509249045

1 SubmittersRCV003515837

NM_002693.3(POLG):c.1023+1G>A

SNV
Germline

Chr15:89328942

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393765326

rs_2509261900

1 SubmittersRCV003626885

NM_002693.3(POLG):c.2557C>G (p.Arg853Gly)

SNV
Germline

Chr15:89321777

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393754389

rs_121918053

1 SubmittersRCV003626909

NM_002693.3(POLG):c.1185C>G (p.Tyr395Ter)

SNV
Germline

Chr15:89328521

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393764258

rs_2509260376

1 SubmittersRCV003626973

NM_002693.3(POLG):c.1356T>A (p.Tyr452Ter)

SNV
Germline

Chr15:89327244

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393762082

rs_3176179

1 SubmittersRCV003627593

NM_002693.3(POLG):c.1451G>A (p.Trp484Ter)

SNV
Germline

Chr15:89327046

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393761192

rs_2509255117

1 SubmittersRCV003627819

NM_002693.3(POLG):c.2598+1G>A

SNV
Germline

Chr15:89321735

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA7724415

rs_372740330

1 SubmittersRCV003627802

NM_002693.3(POLG):c.1942C>T (p.Pro648Ser)

SNV
Germline

Chr15:89325457

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393758919

rs_2055502246

1 SubmittersRCV003627853

NM_002693.3(POLG):c.1950-1G>A

SNV
Germline

Chr15:89324228

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393757924

rs_2509234272

1 SubmittersRCV003627951

NM_002693.3(POLG):c.145C>T (p.Gln49Ter)

SNV
Germline

Chr15:89333610

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393774294

rs_200132079

1 SubmittersRCV003628031

NM_002693.3(POLG):c.2764C>T (p.Gln922Ter)

SNV
Germline

Chr15:89320983

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393753228

rs_2509217738

1 SubmittersRCV003628071

NM_002693.3(POLG):c.3402T>G (p.His1134Gln)

SNV
Germline

Chr15:89318621

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393749802

rs_749765817

1 SubmittersRCV003628169

NM_002693.3(POLG):c.2552C>G (p.Thr851Ser)

SNV
Germline

Chr15:89321782

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393754402

rs_765339802

1 SubmittersRCV003628055

NM_002693.3(POLG):c.2552C>A (p.Thr851Asn)

SNV
Germline

Chr15:89321782

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA7724426

rs_765339802

1 SubmittersRCV003628421

NM_002693.3(POLG):c.730C>T (p.Leu244Phe)

SNV
Germline

Chr15:89330206

Conflicting classifications of pathogenicity

Progressive sclerosing poliodystrophy
not specified

Criteria Provided
Conflicting Classifications

CA393767043

rs_367959489

2 SubmittersRCV003626360 RCV005433437

NM_002693.3(POLG):c.2480+1G>T

SNV
Germline

Chr15:89321961

Pathogenic/Likely pathogenic

Progressive sclerosing poliodystrophy
POLG-Related Spectrum Disorders
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

Criteria Provided
Multiple Submitters
No Conflicts

CA393754897

rs_1567187326

3 SubmittersRCV003626199 RCV005407216 RCV005003692

NM_002693.3(POLG):c.3328C>A (p.His1110Asn)

SNV
Germline

Chr15:89318695

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393749977

rs_2152058760

1 SubmittersRCV003626467

NM_002693.3(POLG):c.967C>T (p.Gln323Ter)

SNV
Germline

Chr15:89328999

Pathogenic/Likely pathogenic

Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

Criteria Provided
Multiple Submitters
No Conflicts

CA393765581

rs_2509262137

2 SubmittersRCV003627176 RCV005013134

NM_002693.3(POLG):c.3152G>C (p.Gly1051Ala)

SNV
Germline

Chr15:89319052

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA7724221

rs_775248939

1 SubmittersRCV003627485

NM_002693.3(POLG):c.157C>T (p.Gln53Ter)

SNV
Germline

Chr15:89333598

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393774175

rs_2509277006

1 SubmittersRCV003627563

NM_002693.3(POLG):c.3482+1G>T

SNV
Germline

Chr15:89318540

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

CA393749639

rs_2509201560

1 SubmittersRCV003873267

NM_002693.3(POLG):c.130C>T (p.Gln44Ter)

SNV
Germline

Chr15:89333625

Likely pathogenic

Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_2509277475

2 SubmittersRCV004574589 RCV005006440

NM_002693.3(POLG):c.1712+2T>G

SNV
Unknown

Chr15:89326610

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

rs_2509252741

1 SubmittersRCV004574590

NM_002693.3(POLG):c.659+1G>C

SNV
Unknown

Chr15:89333095

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

rs_1348641548

1 SubmittersRCV004574592

NM_002693.3(POLG):c.855+1G>C

SNV
Germline

Chr15:89330080

Likely pathogenic

Progressive sclerosing poliodystrophy
POLG-Related Spectrum Disorders

Criteria Provided
Multiple Submitters
No Conflicts

rs_2509264996

2 SubmittersRCV004574593 RCV005433518

NM_002693.3(POLG):c.2755A>G (p.Met919Val)

SNV
Germline

Chr15:89320992

Likely pathogenic

Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

Criteria Provided
Single Submitter

rs_1299487054

1 SubmittersRCV004574886

NM_002693.3(POLG):c.2768G>A (p.Gly923Asp)

SNV
Germline

Chr15:89320979

Conflicting classifications of pathogenicity

Mitochondrial DNA depletion syndrome
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

Criteria Provided
Conflicting Classifications

3 SubmittersRCV004689538 RCV005103537 RCV005006494

NM_002693.3(POLG):c.2902C>G (p.Gln968Glu)

SNV
Germline

Chr15:89320845

Conflicting classifications of pathogenicity

not specified
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004699991 RCV005006501

NM_002693.3(POLG):c.3104+3A>C

SNV
Germline

Chr15:89319225

Likely pathogenic

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

Criteria Provided
Single Submitter

1 SubmittersRCV005003299

NM_002693.3(POLG):c.2209G>T (p.Gly737Ter)

SNV
Germline

Chr15:89323460

Likely pathogenic

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

Criteria Provided
Single Submitter

1 SubmittersRCV005003302

NM_002693.3(POLG):c.2185C>T (p.Gln729Ter)

SNV
Germline

Chr15:89323484

Likely pathogenic

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

Criteria Provided
Single Submitter

1 SubmittersRCV005012117

NM_002693.3(POLG):c.1949+1G>C

SNV
Germline

Chr15:89325449

Likely pathogenic

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

Criteria Provided
Single Submitter

1 SubmittersRCV005003304

NM_002693.3(POLG):c.1170+1G>C

SNV
Germline

Chr15:89328684

Likely pathogenic

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

Criteria Provided
Single Submitter

1 SubmittersRCV005003305

NM_002693.3(POLG):c.1157G>C (p.Arg386Pro)

SNV
Germline

Chr15:89328698

Likely pathogenic

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

Criteria Provided
Single Submitter

1 SubmittersRCV005012120

NM_002693.3(POLG):c.1023+1G>C

SNV
Germline

Chr15:89328942

Likely pathogenic

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

Criteria Provided
Single Submitter

1 SubmittersRCV005012121

NM_002693.3(POLG):c.2690G>A (p.Trp897Ter)

SNV
Germline

Chr15:89321169

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005081624

NM_002693.3(POLG):c.1171-2A>G

SNV
Germline

Chr15:89328537

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005123664

NM_002693.3(POLG):c.1996C>T (p.Gln666Ter)

SNV
Germline

Chr15:89324181

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005143398

NM_002693.3(POLG):c.782G>A (p.Trp261Ter)

SNV
Germline

Chr15:89330154

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005168659

NM_002693.3(POLG):c.3543T>A (p.Ser1181Arg)

SNV
Germline

Chr15:89317476

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005192588

NM_002693.3(POLG):c.934T>C (p.Trp312Arg)

SNV
Germline

Chr15:89329032

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005195678

NM_002693.3(POLG):c.313G>T (p.Glu105Ter)

SNV
Germline

Chr15:89333442

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005207335

NM_002693.3(POLG):c.3319G>A (p.Asp1107Asn)

SNV
Germline

Chr15:89318704

Likely pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005233261

NM_002693.3(POLG):c.1180C>T (p.Gln394Ter)

SNV
Germline

Chr15:89328526

Pathogenic

Progressive sclerosing poliodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005410071

NM_002693.3(POLG):c.3265C>T (p.Gln1089Ter)

SNV
Germline

Chr15:89318939

Likely pathogenic

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b

Criteria Provided
Single Submitter

1 SubmittersRCV005413231