Total 270 pathogenic variants reported for Progressive external ophthalmoplegia 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_021830.5(TWNK):c.1423G>C (p.Ala475Pro) SNV
Germline		 Chr10:100989823 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 No Assertion Criteria Provided
 CA116958 rs_111033572

1 SubmittersRCV000004880
NM_021830.5(TWNK):c.1075G>A (p.Ala359Thr) SNV
Germline		 Chr10:100989285 Pathogenic/Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Mitochondrial disease
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA116959 rs_111033573

5 SubmittersRCV000004881RCV000508874RCV002512779
NM_021830.5(TWNK):c.1422G>A (p.Trp474Ter) SNV
Germline		 Chr10:100989822 Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Infantile onset spinocerebellar ataxia
Perrault syndrome 5
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		 Criteria Provided
Single Submitter
 CA116960 rs_111033574

2 SubmittersRCV000004882RCV002496262
NM_021830.5(TWNK):c.944G>T (p.Trp315Leu) SNV
Germline		 Chr10:100989154 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 No Assertion Criteria Provided
 CA116962 rs_111033575

1 SubmittersRCV000004883
NM_021830.5(TWNK):c.1061G>C (p.Arg354Pro) SNV
Germline		 Chr10:100989271 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 No Assertion Criteria Provided
 CA116963 rs_111033576

1 SubmittersRCV000004884
NM_021830.5(TWNK):c.1142T>C (p.Leu381Pro) SNV
Germline		 Chr10:100989352 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Mitochondrial disease		 No Assertion Criteria Provided
 CA116964 rs_111033577

2 SubmittersRCV000004885RCV000508905
NM_021830.5(TWNK):c.1001G>A (p.Arg334Gln) SNV
Germline		 Chr10:100989211 Pathogenic/Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic
Mitochondrial disease
Infantile onset spinocerebellar ataxia
Condition: not provided
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA116965 rs_28937887

6 SubmittersRCV000004886RCV000508769RCV001542762RCV001093424RCV002288465
NM_021830.5(TWNK):c.1106C>A (p.Ser369Tyr) SNV
Germline		 Chr10:100989316 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 Criteria Provided
Multiple Submitters
No Conflicts
 CA116967 rs_111033579

3 SubmittersRCV000004887
NM_021830.5(TWNK):c.955A>G (p.Lys319Glu) SNV
Germline		 Chr10:100989165 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		 No Assertion Criteria Provided
 CA116968 rs_80356543

2 SubmittersRCV000004888RCV000020867
NM_021830.5(TWNK):c.908G>A (p.Arg303Gln) SNV
Germline		 Chr10:100989118 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA116969 rs_137852956

3 SubmittersRCV000004891RCV001289123
NM_021830.5(TWNK):c.1120C>T (p.Arg374Trp) SNV
Germline		 Chr10:100989330 Pathogenic/Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA116970 rs_267606682

4 SubmittersRCV000004892RCV000523637
NM_007215.4(POLG2):c.1352G>A (p.Gly451Glu) SNV
Germline		 Chr17:64477929 Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
POLG2-related disorder
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA117371 rs_104894632

3 SubmittersRCV000005594RCV003330384RCV004808547
NM_015713.5(RRM2B):c.979C>T (p.Arg327Ter) SNV
Germline		 Chr8:102208210 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
RRM2B-related mitochondrial disease
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA117487 rs_121918310

8 SubmittersRCV000005722RCV000119016RCV000197531
NM_080916.3(DGUOK):c.425G>A (p.Arg142Lys) SNV
Germline		 Chr2:73946888 Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Condition: not provided
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4		 Criteria Provided
Multiple Submitters
No Conflicts
 CA254328 rs_104893631

3 SubmittersRCV000008635RCV001545403RCV005252668
NM_080916.3(DGUOK):c.679G>A (p.Glu227Lys) SNV
Germline		 Chr2:73957212 Pathogenic Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Inborn genetic diseases
Condition: not provided
DGUOK-related disorder
Portal hypertension, noncirrhotic, 1
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4		 Criteria Provided
Multiple Submitters
No Conflicts
 CA254329 rs_104893632

6 SubmittersRCV000008636RCV002512917RCV001568974RCV004540991RCV004795384
NM_080916.3(DGUOK):c.763G>T (p.Asp255Tyr) SNV
Germline		 Chr2:73958201 Likely pathogenic Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Portal hypertension, noncirrhotic, 1
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4		 Criteria Provided
Single Submitter
 CA254330 rs_104893633

2 SubmittersRCV000008637RCV004795385
NC_012920.1(MT-TL1):m.3251A>G SNV
Germline		 ChrMT:3251 Likely pathogenic Progressive external ophthalmoplegia, proximal myopathy, and sudden death
MELAS syndrome
Mitochondrial disease		 Reviewed By Expert Panel
 CA120565 rs_199474662

4 SubmittersRCV000010218RCV000850691RCV004791201
NM_004614.5(TK2):c.323C>T (p.Thr108Met) SNV
Germline		 Chr16:66531432 Pathogenic Mitochondrial DNA depletion syndrome, myopathic form
Condition: not provided
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
TK2-related disorder
Mitochondrial DNA depletion syndrome
Mitochondrial disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA324292 rs_137854431

16 SubmittersRCV000013547RCV000199738RCV003883499RCV004757106RCV003993743RCV005357120
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 SubmittersRCV000014439RCV000508934RCV000676321RCV000758267RCV003478975
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 SubmittersRCV000014440RCV000014441RCV000014442RCV000014443RCV000188658RCV000184011RCV000347876RCV000508942RCV001004604RCV001095683RCV001198082RCV001376079RCV001731286RCV002273931RCV001813983RCV001847600RCV002316195RCV005624689
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 SubmittersRCV000014444RCV000188648RCV000626287RCV000762954RCV001266602RCV003387722RCV005007843
NM_002693.3(POLG):c.8G>C (p.Arg3Pro) SNV
Germline		 Chr15:89333747 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 No Assertion Criteria Provided
 CA256885 rs_121918045

1 SubmittersRCV000014445
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 SubmittersRCV000014446RCV001382679RCV001781264RCV004579531RCV005003357
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 SubmittersRCV000014454RCV000758263RCV001797046RCV004700232RCV004786259RCV005007844
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 SubmittersRCV000014455RCV000188604RCV000778451RCV000226986RCV002251905RCV004760332RCV005007845
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 SubmittersRCV000014449RCV000014450RCV000014451RCV000014452RCV000188580RCV000363602RCV000678386RCV001027839RCV001847601RCV002054437RCV003230362RCV002272018RCV002313707RCV003231103RCV005364878
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 SubmittersRCV000014448RCV000014447RCV000184009RCV000188641RCV000194055RCV000262479RCV000415105RCV001004407RCV001813985RCV001642225RCV002272019RCV002319423RCV001847602RCV000020484RCV003458331RCV004584325RCV005406744RCV005007846RCV005357125RCV001678594RCV001813742RCV002313708
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 SubmittersRCV000014456RCV000020473RCV000186576RCV000193529RCV000508752RCV000415307RCV000408293RCV000427845RCV001004602RCV001847603RCV001813743RCV002319424RCV004584326RCV003458332RCV005357126RCV001610290RCV001642226RCV001813986RCV002313709
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 SubmittersRCV000014458RCV004586006RCV005007847RCV002513043
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 SubmittersRCV000014459RCV000014460RCV000014461RCV000080023RCV000313739RCV000508846RCV000507757RCV001198081RCV002247336RCV002313710RCV003985719RCV005007848RCV005364879
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 SubmittersRCV000014462RCV003460472
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 SubmittersRCV000014466RCV000560575RCV001449754RCV003333951RCV003330388RCV005007849
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 SubmittersRCV000014467RCV000233045RCV000188568RCV000508744RCV000370280RCV000768053RCV001004601RCV001813987RCV002316196RCV003985721RCV001847605RCV003318542
NM_002693.3(POLG):c.1532G>A (p.Ser511Asn) SNV
Germline		 Chr15:89326965 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 No Assertion Criteria Provided
 CA256901 rs_121918055

1 SubmittersRCV000014468
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 SubmittersRCV000014469RCV000255169RCV000525480RCV000787362RCV002513044RCV005007850RCV004586007
NM_001151.4(SLC25A4):c.340G>C (p.Ala114Pro) SNV
Germline		 Chr4:185144992 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
Condition: not provided		 Criteria Provided
Single Submitter
 CA127984 rs_104893873

2 SubmittersRCV000019907RCV005243101
NM_001151.4(SLC25A4):c.865G>A (p.Val289Met) SNV
Germline		 Chr4:185146939 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 No Assertion Criteria Provided
 CA127985 rs_104893874

1 SubmittersRCV000019908
NM_001151.4(SLC25A4):c.293T>C (p.Leu98Pro) SNV
Germline		 Chr4:185144945 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 No Assertion Criteria Provided
 CA127986 rs_104893876

1 SubmittersRCV000019909
NM_001151.4(SLC25A4):c.311A>G (p.Asp104Gly) SNV
Germline		 Chr4:185144963 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 No Assertion Criteria Provided
 CA127987 rs_28999114

1 SubmittersRCV000019910
NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp) SNV
Germline		 Chr4:185145020 Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive
Condition: not provided
Hypertrophic cardiomyopathy
Mitochondrial respiratory chain defects
Abnormality of mitochondrial metabolism
Inborn mitochondrial myopathy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
Vertigo
Myopia
Progressive sensorineural hearing impairment
Left ventricular hypertrophy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA127988 rs_121912683

6 SubmittersRCV000019911RCV000414338RCV000626769RCV001198599RCV000626767RCV000626768
NM_004614.5(TK2):c.133C>T (p.Gln45Ter) SNV
Germline		 Chr16:66549001 Pathogenic Condition: not provided
Mitochondrial disease
Mitochondrial DNA depletion syndrome, myopathic form
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA343286 rs_281865486

4 SubmittersRCV001852642RCV005357229RCV002496489
NM_004614.5(TK2):c.173A>G (p.Asn58Ser) SNV
Germline		 Chr16:66541937 Pathogenic/Likely pathogenic Condition: not provided
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
Mitochondrial DNA depletion syndrome, myopathic form
Mitochondrial DNA depletion syndrome
Mitochondrial DNA depletion syndrome 2, myopathic form
Mitochondrial disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA343291 rs_138439950

6 SubmittersRCV000519291RCV000762978RCV004782026RCV004798750RCV005357231
NM_004614.5(TK2):c.191C>T (p.Thr64Met) SNV
Germline		 Chr16:66541919 Conflicting classifications of pathogenicity Condition: not provided
not specified
Mitochondrial DNA depletion syndrome, myopathic form
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
Mitochondrial disease		 Criteria Provided
Conflicting Classifications
 CA343293 rs_281865487

7 SubmittersRCV001852643RCV004689431RCV005007920RCV005357232
NM_004614.5(TK2):c.416C>T (p.Ala139Val) SNV
Germline		 Chr16:66529027 Pathogenic/Likely pathogenic Condition: not provided
Mitochondrial DNA depletion syndrome
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
Mitochondrial DNA depletion syndrome, myopathic form
TK2-related disorder
Mitochondrial disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA322107 rs_281865494

12 SubmittersRCV000197645RCV000615451RCV000762977RCV003904881RCV005357237
NM_004614.5(TK2):c.547C>T (p.Arg183Trp) SNV
Germline		 Chr16:66517207 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
Condition: not provided
Mitochondrial DNA depletion syndrome, myopathic form
Mitochondrial disease
Mitochondrial DNA depletion syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA320800 rs_137886900

8 SubmittersRCV000239457RCV001380377RCV000032251RCV005357239RCV003230374
NM_004614.5(TK2):c.562A>G (p.Thr188Ala) SNV
Germline		 Chr16:66517192 Pathogenic/Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
Mitochondrial disease
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA343313 rs_281865495

3 SubmittersRCV000239458RCV005357240RCV001852646
NM_007215.4(POLG2):c.614C>G (p.Pro205Arg) SNV
Germline		 Chr17:64492970 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 No Assertion Criteria Provided
 CA130798 rs_397514659

1 SubmittersRCV000033245
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 SubmittersRCV000118016RCV000515366RCV000678829RCV000234341RCV002243762RCV003330442RCV004732689RCV001847713RCV002272131RCV002316314
NM_015713.5(RRM2B):c.48G>A (p.Glu16=) SNV
Germline		 Chr8:102238827 Pathogenic/Likely pathogenic RRM2B-related mitochondrial disease
Mitochondrial disease
Condition: not provided
Mitochondrial DNA depletion syndrome 8a
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Mitochondrial DNA depletion syndrome 8a		 Criteria Provided
Multiple Submitters
No Conflicts
 CA345542 rs_515726180

8 SubmittersRCV000118982RCV000508788RCV001379488RCV001089491RCV002498540
NM_015713.5(RRM2B):c.121C>T (p.Arg41Trp) SNV
Germline		 Chr8:102232232 Pathogenic/Likely pathogenic RRM2B-related mitochondrial disease
Mitochondrial DNA depletion syndrome 8a
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
Mitochondrial DNA depletion syndrome 8a
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		 Criteria Provided
Multiple Submitters
No Conflicts
 CA345546 rs_515726181

3 SubmittersRCV000118983RCV000659255RCV005042220
NM_015713.5(RRM2B):c.122G>C (p.Arg41Pro) SNV
Germline		 Chr8:102232231 Conflicting classifications of pathogenicity RRM2B-related mitochondrial disease
Condition: not provided
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
Mitochondrial DNA depletion syndrome 8a
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		 Criteria Provided
Conflicting Classifications
 CA345556 rs_200273673

4 SubmittersRCV000118985RCV003324724RCV005042221
NM_015713.5(RRM2B):c.431C>T (p.Thr144Ile) SNV
Germline		 Chr8:102224909 Conflicting classifications of pathogenicity RRM2B-related mitochondrial disease
not specified
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
Mitochondrial DNA depletion syndrome 8a
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		 Criteria Provided
Conflicting Classifications
 CA345586 rs_515726189

3 SubmittersRCV000118997RCV000505928RCV005031616
NM_015713.5(RRM2B):c.671T>G (p.Ile224Ser) SNV
Germline		 Chr8:102218827 Pathogenic/Likely pathogenic RRM2B-related mitochondrial disease
Condition: not provided
Mitochondrial DNA depletion syndrome 8a
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
Mitochondrial DNA depletion syndrome 8a
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		 Criteria Provided
Multiple Submitters
No Conflicts
 CA324021 rs_515726196

8 SubmittersRCV000119006RCV000199478RCV000659254RCV002483200RCV004720239
NM_015713.5(RRM2B):c.846G>C (p.Met282Ile) SNV
Germline		 Chr8:102212833 Likely pathogenic RRM2B-related mitochondrial disease
Condition: not provided
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
Mitochondrial DNA depletion syndrome 8a
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		 Criteria Provided
Multiple Submitters
No Conflicts
 CA345612 rs_182614164

5 SubmittersRCV000119009RCV001091699RCV005042222
NM_021830.5(TWNK):c.639C>T (p.Gly213=) SNV
Germline		 Chr10:100988849 Conflicting classifications of pathogenicity not specified
Infantile onset spinocerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Autosomal recessive cerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Condition: not provided
Hereditary spastic paraplegia		 Criteria Provided
Conflicting Classifications
 CA302706 rs_11542130

8 SubmittersRCV000173516RCV000305599RCV000359159RCV000395926RCV000301625RCV000676300RCV001847741
NM_021830.5(TWNK):c.1735-14C>A SNV
Germline		 Chr10:100993176 Conflicting classifications of pathogenicity not specified
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Infantile onset spinocerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Autosomal recessive cerebellar ataxia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA289762 rs_201795189

4 SubmittersRCV000124046RCV000335702RCV000314586RCV000369307RCV000396649RCV002055436
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 SubmittersRCV000127526RCV000403402RCV001457683RCV000709782RCV000734626RCV003985730
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 SubmittersRCV000127539RCV000316461RCV000768049RCV000559092RCV000726414RCV001847754RCV003441747
NM_015713.5(RRM2B):c.48+96G>C SNV
Germline		 Chr8:102238731 Conflicting classifications of pathogenicity not specified
RRM2B-related disorder
Condition: not provided
Mitochondrial DNA depletion syndrome 8a
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction		 Criteria Provided
Conflicting Classifications
 CA293117 rs_200373694

5 SubmittersRCV000127811RCV003925264RCV003311690RCV005394464
NM_021830.5(TWNK):c.1172G>A (p.Arg391His) SNV
Germline		 Chr10:100989382 Conflicting classifications of pathogenicity Perrault syndrome 5
Autosomal recessive cerebellar ataxia
Infantile onset spinocerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Perrault syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA174962 rs_556445621

5 SubmittersRCV000149470RCV000345001RCV000290037RCV000305281RCV000403533RCV002516006RCV002516005
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 SubmittersRCV000173762RCV000538134RCV000710183RCV000768055RCV002313026RCV003985737RCV004799186
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 SubmittersRCV000175301RCV000758266RCV001808449RCV003323426RCV004732740
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 SubmittersRCV000177165RCV000233823RCV000709833RCV000415771RCV002312719RCV001847817RCV002227084RCV000768291RCV001121511RCV002516726
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 SubmittersRCV000188614RCV000551933RCV002314742RCV005003545RCV003479051RCV004732766
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 SubmittersRCV000188603RCV000633548RCV001808470RCV002247605RCV002317146RCV003483565RCV004732764RCV004796081RCV005365111RCV005418005
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 SubmittersRCV000551001RCV000710186RCV000765239RCV001121338RCV001332169RCV004955314RCV005361098RCV004732759
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 SubmittersRCV000188591RCV000490261RCV000633558RCV000984890RCV001847830RCV001808469RCV002247604RCV002317145RCV003232987RCV003992217RCV004732762RCV004796080RCV005361099
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 SubmittersRCV000188583RCV000758451RCV003137764RCV003330554
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 SubmittersRCV000188581RCV000633537RCV000762953RCV001252349RCV001847829RCV002517007RCV004526636RCV004786515RCV005256576
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 SubmittersRCV000188575RCV000758305RCV005003543
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 SubmittersRCV000188572RCV000758416RCV001270867RCV002514034RCV005008114RCV004799198RCV003985755
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 SubmittersRCV000188510RCV000633561RCV000768054RCV001121414RCV001721213RCV002317140RCV003985742
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 SubmittersRCV000188671RCV000702972RCV002288793RCV005008119
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 SubmittersRCV000188667RCV001847837RCV001814096RCV001348402RCV003226244
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 SubmittersRCV000188664RCV002517886RCV003985761RCV005008118
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 SubmittersRCV000470781RCV000658725RCV000678827RCV000763995RCV001027840RCV001004603RCV001117972RCV001330959RCV001610504RCV001847836RCV002314743RCV003230444RCV004786516RCV004725036RCV004799199
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 SubmittersRCV000188650RCV000660573RCV000758259RCV004732770RCV003989500RCV005008117
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 SubmittersRCV000188649RCV000758271RCV000995844RCV001332170RCV002372152
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 SubmittersRCV000188646RCV000768290RCV000806434
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 SubmittersRCV000188643RCV000616176RCV000231645RCV001004406RCV001847834RCV002514036RCV003235111RCV002226693RCV005008116RCV005396564
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 SubmittersRCV000633538RCV000678826RCV000710188RCV001121513RCV001263148RCV001808471RCV002362986RCV003317141RCV004732768RCV005396563
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 SubmittersRCV000461638RCV000727081RCV000768048RCV001804925RCV002317148
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys) SNV
Germline		 Chr2:73950603 Conflicting classifications of pathogenicity Condition: not provided
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Inborn genetic diseases
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
Portal hypertension, noncirrhotic, 1
DGUOK-related disorder		 Criteria Provided
Conflicting Classifications
 CA320135 rs_144181978

11 SubmittersRCV000195764RCV000239593RCV003235120RCV002517206RCV005025316RCV003895259
NM_080916.3(DGUOK):c.591G>A (p.Gln197=) SNV
Germline		 Chr2:73950732 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Portal hypertension, noncirrhotic
Condition: not provided
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Portal hypertension, noncirrhotic, 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
DGUOK-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA322101 rs_748597500

7 SubmittersRCV000763090RCV000197640RCV003333049RCV005025317RCV004528983
NM_015713.5(RRM2B):c.544A>G (p.Thr182Ala) SNV
Germline		 Chr8:102224052 Conflicting classifications of pathogenicity not specified
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Mitochondrial DNA depletion syndrome 8a
Condition: not provided
Mitochondrial DNA depletion syndrome 8a
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		 Criteria Provided
Conflicting Classifications
 CA323548 rs_147315735

4 SubmittersRCV000199003RCV001164963RCV001164964RCV002517256RCV005031731
NM_015713.5(RRM2B):c.520C>T (p.Arg174Ter) SNV
Germline		 Chr8:102224076 Pathogenic/Likely pathogenic Condition: not provided
Mitochondrial DNA depletion syndrome 8a
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		 Criteria Provided
Multiple Submitters
No Conflicts
 CA324390 rs_863224191

3 SubmittersRCV000199844RCV005031732
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) SNV
Germline		 Chr10:100989406 Conflicting classifications of pathogenicity Infantile onset spinocerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Condition: not provided
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Autosomal recessive cerebellar ataxia
Perrault syndrome		 Criteria Provided
Conflicting Classifications
 CA324207 rs_863223921

6 SubmittersRCV000578276RCV001105893RCV001722090RCV001105894RCV001105895RCV002515383
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg) SNV
Germline		 Chr10:100990973 Conflicting classifications of pathogenicity Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
not specified
Condition: not provided
Autosomal recessive cerebellar ataxia
Infantile onset spinocerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
TWNK-related disorder		 Criteria Provided
Conflicting Classifications
 CA323752 rs_116046810

4 SubmittersRCV000284653RCV000199218RCV000909034RCV000402465RCV000300073RCV000339690RCV004530166
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr) SNV
Germline		 Chr10:100993430 Conflicting classifications of pathogenicity Infantile onset spinocerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Autosomal recessive cerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Perrault syndrome 5
Infantile onset spinocerebellar ataxia
Condition: not provided
Perrault syndrome 5		 Criteria Provided
Conflicting Classifications
 CA324977 rs_370814108

6 SubmittersRCV000326494RCV000267823RCV000322888RCV000381173RCV001838991RCV000712523RCV004558440
NM_021830.5(TWNK):c.2045G>A (p.Arg682His) SNV
Germline		 Chr10:100993500 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Condition: not provided
Autosomal recessive cerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Infantile onset spinocerebellar ataxia
Hereditary spastic paraplegia
TWNK-related disorder		 Criteria Provided
Conflicting Classifications
 CA323951 rs_182559752

6 SubmittersRCV000338208RCV000871398RCV000374204RCV000283282RCV000377740RCV001847877RCV004530167
NM_004614.5(TK2):c.415G>A (p.Ala139Thr) SNV
Germline		 Chr16:66529028 Pathogenic/Likely pathogenic Condition: not provided
Mitochondrial DNA depletion syndrome
Mitochondrial disease
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
Mitochondrial DNA depletion syndrome, myopathic form		 Criteria Provided
Multiple Submitters
No Conflicts
 CA323276 rs_138479499

5 SubmittersRCV001927990RCV002266060RCV005361816RCV005006210
NM_007215.4(POLG2):c.703A>G (p.Thr235Ala) SNV
Germline		 Chr17:64492759 Conflicting classifications of pathogenicity Condition: not provided
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Mitochondrial DNA depletion syndrome 16 (hepatic type)
Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)		 Criteria Provided
Conflicting Classifications
 CA322282 rs_148941150

5 SubmittersRCV000197824RCV005230059RCV005396594
NM_007215.4(POLG2):c.181G>A (p.Gly61Arg) SNV
Germline		 Chr17:64496788 Conflicting classifications of pathogenicity Condition: not provided
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4		 Criteria Provided
Conflicting Classifications
 CA325221 rs_144148008

4 SubmittersRCV001092729RCV001128514
NM_021830.5(TWNK):c.904C>T (p.Arg302Trp) SNV
Germline		 Chr10:100989114 Conflicting classifications of pathogenicity Infantile onset spinocerebellar ataxia
Condition: not provided
not specified
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3		 Criteria Provided
Conflicting Classifications
 CA5653134 rs_374997012

7 SubmittersRCV000239858RCV001762457RCV003317155RCV003989505
NM_007215.4(POLG2):c.544C>T (p.Arg182Trp) SNV
Germline		 Chr17:64496425 Conflicting classifications of pathogenicity Acute liver failure
Condition: not provided
Mitochondrial DNA depletion syndrome 16A
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4		 Criteria Provided
Conflicting Classifications
 CA10586136 rs_886037843

5 SubmittersRCV000258005RCV000432548RCV000824678RCV002290967
NM_080916.3(DGUOK):c.137A>G (p.Asn46Ser) SNV
Germline		 Chr2:73927047 Pathogenic/Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
Portal hypertension, noncirrhotic
Portal hypertension, noncirrhotic, 1
Condition: not provided
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1718151 rs_763615602

4 SubmittersRCV000239535RCV000239586RCV001799645RCV001550857RCV001824706
NM_080916.3(DGUOK):c.130G>A (p.Glu44Lys) SNV
Germline		 Chr2:73927040 Pathogenic/Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1718150 rs_762550967

4 SubmittersRCV000239555RCV001782737
NM_080916.3(DGUOK):c.186C>A (p.Tyr62Ter) SNV
Germline		 Chr2:73938953 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 No Assertion Criteria Provided
 CA10586178 rs_879255617

1 SubmittersRCV000239511
NM_080916.3(DGUOK):c.444-11C>G SNV
Germline		 Chr2:73950574 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10586179 rs_536746349

4 SubmittersRCV000239560RCV000478803
NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln) SNV
Germline		 Chr10:100993505 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions
Mitochondrial DNA depletion syndrome
Ataxia Neuropathy Spectrum Disorders
Autosomal recessive cerebellar ataxia
Condition: not provided
Hereditary spastic paraplegia
Infantile onset spinocerebellar ataxia
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA5653396 rs_369223258

8 SubmittersRCV000278667RCV000312773RCV000352301RCV000406261RCV001722382RCV001848044RCV001336025RCV004021053
NM_021830.5(TWNK):c.241C>G (p.Leu81Val) SNV
Germline		 Chr10:100988451 Conflicting classifications of pathogenicity Condition: not provided
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Infantile onset spinocerebellar ataxia
Autosomal recessive cerebellar ataxia
Hereditary spastic paraplegia		 Criteria Provided
Conflicting Classifications
 CA5653043 rs_145068570

7 SubmittersRCV000320273RCV001107964RCV001102728RCV001107963RCV001107965RCV001848043
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 SubmittersRCV000359026RCV000758422RCV003985766RCV005003603
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 SubmittersRCV000261805RCV000547242RCV000626194RCV001263147RCV004732814RCV004819196RCV005008229
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 SubmittersRCV000306622RCV000321917RCV000633543RCV001004600RCV001848045RCV003985765RCV004786646RCV005003601
NM_021830.5(TWNK):c.384C>T (p.Ser128=) SNV
Germline		 Chr10:100988594 Conflicting classifications of pathogenicity Infantile onset spinocerebellar ataxia
Condition: not provided
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Autosomal recessive cerebellar ataxia
Hereditary spastic paraplegia		 Criteria Provided
Conflicting Classifications
 CA5653057 rs_148234280

6 SubmittersRCV000294722RCV000336672RCV000347919RCV000351895RCV000386725RCV001848047
NM_001151.4(SLC25A4):c.732G>C (p.Arg244=) SNV
Germline		 Chr4:185145892 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10620534 rs_886059266

2 SubmittersRCV000334374RCV003660789
NM_015713.5(RRM2B):c.*2822A>T SNV
Germline		 Chr8:102205311 Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 8a
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		 Criteria Provided
Conflicting Classifications
 CA10624458 rs_189278573

1 SubmittersRCV000300250RCV000357451
NM_015713.5(RRM2B):c.*11G>A SNV
Germline		 Chr8:102208122 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Mitochondrial DNA depletion syndrome 8a
not specified		 Criteria Provided
Conflicting Classifications
 CA4830952 rs_29000285

2 SubmittersRCV000278088RCV000342400RCV000424236
NM_015713.5(RRM2B):c.*3078G>T SNV
Germline		 Chr8:102205055 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Mitochondrial DNA depletion syndrome 8a		 Criteria Provided
Conflicting Classifications
 CA10626634 rs_113860402

1 SubmittersRCV000289425RCV000381514
NM_015713.5(RRM2B):c.*817G>A SNV
Germline		 Chr8:102207316 Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 8a
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		 Criteria Provided
Conflicting Classifications
 CA10626671 rs_190474682

1 SubmittersRCV000355046RCV000406402
NM_021830.5(TWNK):c.-650A>G SNV
Germline		 Chr10:100987561 Conflicting classifications of pathogenicity Infantile onset spinocerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Autosomal recessive cerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10627852 rs_187213541

2 SubmittersRCV000278960RCV000351651RCV000336415RCV000403866RCV002292507
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg) SNV
Germline		 Chr10:100989252 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Autosomal recessive cerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Infantile onset spinocerebellar ataxia
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA5653154 rs_62626271

9 SubmittersRCV000273839RCV000296339RCV000331424RCV000388304RCV000994494RCV004021460
NM_021830.5(TWNK):c.1488T>C (p.Thr496=) SNV
Germline		 Chr10:100990439 Conflicting classifications of pathogenicity Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Infantile onset spinocerebellar ataxia
Autosomal recessive cerebellar ataxia
Condition: not provided
TWNK-related disorder		 Criteria Provided
Conflicting Classifications
 CA5653252 rs_549767223

3 SubmittersRCV000301666RCV000356457RCV000359896RCV000395193RCV003105861RCV004544498
NM_015713.5(RRM2B):c.913G>T (p.Ala305Ser) SNV
Germline		 Chr8:102208276 Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 8a
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4830963 rs_201440849

2 SubmittersRCV000303281RCV000392494RCV003766074
NM_015713.5(RRM2B):c.756G>A (p.Arg252=) SNV
Germline		 Chr8:102214087 Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 8a
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4831008 rs_377736828

2 SubmittersRCV000269016RCV000314816RCV003766075
NM_015713.5(RRM2B):c.540A>G (p.Lys180=) SNV
Germline		 Chr8:102224056 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Mitochondrial DNA depletion syndrome 8a
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4831078 rs_200301242

4 SubmittersRCV000275167RCV000369842RCV000963226
NM_015713.5(RRM2B):c.790-9T>C SNV
Germline		 Chr8:102212898 Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 8a
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4830991 rs_573435546

2 SubmittersRCV000308909RCV000363537RCV002523609
NM_021830.5(TWNK):c.-290G>C SNV
Germline		 Chr10:100987921 Conflicting classifications of pathogenicity Infantile onset spinocerebellar ataxia
Autosomal recessive cerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		 Criteria Provided
Conflicting Classifications
 CA10630756 rs_62626270

1 SubmittersRCV000260000RCV000317524RCV000370858RCV000374562
NM_021830.5(TWNK):c.*301C>T SNV
Germline		 Chr10:100993811 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Autosomal recessive cerebellar ataxia
Infantile onset spinocerebellar ataxia		 Criteria Provided
Conflicting Classifications
 CA10630757 rs_41291468

1 SubmittersRCV000261655RCV000316885RCV000320279RCV000356361
NM_021830.5(TWNK):c.76G>A (p.Gly26Ser) SNV
Germline		 Chr10:100988286 Conflicting classifications of pathogenicity Autosomal recessive cerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Infantile onset spinocerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5653019 rs_577209883

3 SubmittersRCV000311980RCV000350458RCV000398995RCV000406517RCV001515622
NM_021830.5(TWNK):c.492C>T (p.Leu164=) SNV
Germline		 Chr10:100988702 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Infantile onset spinocerebellar ataxia
Autosomal recessive cerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5653070 rs_775463083

3 SubmittersRCV000279300RCV000336716RCV000405350RCV000395922RCV002262948
NM_021830.5(TWNK):c.922T>C (p.Leu308=) SNV
Germline		 Chr10:100989132 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Autosomal recessive cerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Infantile onset spinocerebellar ataxia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5653139 rs_754389465

2 SubmittersRCV000270402RCV000327796RCV000362650RCV000366062RCV000872826
NM_021830.5(TWNK):c.1101C>T (p.Ile367=) SNV
Germline		 Chr10:100989311 Conflicting classifications of pathogenicity Autosomal recessive cerebellar ataxia
Infantile onset spinocerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Hereditary spastic paraplegia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5653164 rs_200798080

3 SubmittersRCV000281131RCV000316283RCV000338588RCV000373330RCV001848070RCV002059511
NM_021830.5(TWNK):c.*204G>A SNV
Germline		 Chr10:100993714 Conflicting classifications of pathogenicity Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Infantile onset spinocerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Autosomal recessive cerebellar ataxia
Condition: not provided
Hereditary spastic paraplegia		 Criteria Provided
Conflicting Classifications
 CA10634372 rs_61871507

3 SubmittersRCV000308919RCV000348968RCV000363555RCV000404345RCV001582924RCV001848071
NM_021830.5(TWNK):c.*419A>T SNV
Germline		 Chr10:100993929 Conflicting classifications of pathogenicity Infantile onset spinocerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Autosomal recessive cerebellar ataxia		 Criteria Provided
Conflicting Classifications
 CA10634375 rs_187553791

1 SubmittersRCV000289702RCV000293240RCV000348190RCV000390735
NM_007215.4(POLG2):c.674G>A (p.Arg225Gln) SNV
Germline		 Chr17:64492910 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Condition: not provided
not specified
Hereditary spastic paraplegia		 Criteria Provided
Conflicting Classifications
 CA8712956 rs_148101254

5 SubmittersRCV000335486RCV000441311RCV000421922RCV001848667
NM_007215.4(POLG2):c.496C>G (p.Gln166Glu) SNV
Germline		 Chr17:64496473 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA8713012 rs_370683331

5 SubmittersRCV000314651RCV001775769RCV004021710
NM_002936.6(RNASEH1):c.424G>A (p.Val142Ile) SNV
Germline		 Chr2:3550458 Pathogenic/Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1516262 rs_766294940

6 SubmittersRCV000412621RCV001566031RCV005268602
NM_002936.6(RNASEH1):c.469C>T (p.Arg157Ter) SNV
Germline		 Chr2:3550413 Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2
Condition: not provided		 Criteria Provided
Single Submitter
 CA1516256 rs_373442996

2 SubmittersRCV000412498RCV002523895
NM_002936.6(RNASEH1):c.554C>T (p.Ala185Val) SNV
Germline		 Chr2:3549068 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 No Assertion Criteria Provided
 CA16042236 rs_1057517675

1 SubmittersRCV000412557
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 SubmittersRCV000413284RCV000821077RCV005010308RCV004800399
NM_021830.5(TWNK):c.1609T>C (p.Tyr537His) SNV
Germline		 Chr10:100990885 Conflicting classifications of pathogenicity Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Hereditary spastic paraplegia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Autosomal recessive cerebellar ataxia
Condition: not provided
TWNK-related disorder
Infantile onset spinocerebellar ataxia
not specified		 Criteria Provided
Conflicting Classifications
 CA5653294 rs_144001072

7 SubmittersRCV001105999RCV001848766RCV001105997RCV001105998RCV000726623RCV004533016RCV001106000RCV003993959
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 SubmittersRCV000438492RCV000758261RCV003147454RCV004022346RCV005010323
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 SubmittersRCV000431312RCV005004154RCV000758415
NM_007215.4(POLG2):c.562+11C>T SNV
Germline		 Chr17:64496396 Conflicting classifications of pathogenicity not specified
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8713001 rs_782336056

3 SubmittersRCV000426134RCV001126453RCV002062693
NM_021830.5(TWNK):c.1003C>A (p.Pro335Thr) SNV
Germline		 Chr10:100989213 Conflicting classifications of pathogenicity Condition: not provided
Mitochondrial disease
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3		 Criteria Provided
Conflicting Classifications
 CA378209644 rs_1554887028

4 SubmittersRCV000497430RCV000508711RCV001332412
NM_021830.5(TWNK):c.1121G>A (p.Arg374Gln) SNV
Germline		 Chr10:100989331 Pathogenic/Likely pathogenic Mitochondrial disease
Condition: not provided
8 conditions
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA378209878 rs_1554887097

6 SubmittersRCV000508920RCV000517894RCV000626956RCV004689760
NM_021830.5(TWNK):c.1374G>T (p.Gln458His) SNV
Germline		 Chr10:100989774 Pathogenic Mitochondrial disease
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3		 Criteria Provided
Single Submitter
 CA378210725 rs_1554887213

2 SubmittersRCV000508722RCV004787794
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 SubmittersRCV000814983RCV000493626RCV000508838RCV002527019RCV004732901RCV005010403
NM_021830.5(TWNK):c.56G>A (p.Gly19Glu) SNV
Germline		 Chr10:100988266 Conflicting classifications of pathogenicity Condition: not provided
Infantile onset spinocerebellar ataxia
Autosomal recessive cerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		 Criteria Provided
Conflicting Classifications
 CA5653011 rs_767175342

3 SubmittersRCV000489778RCV001107307RCV001107308RCV001107309RCV001107306
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 SubmittersRCV004760533RCV001375606RCV000493365RCV000686358RCV002524050
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 SubmittersRCV000501672RCV002524270RCV005010436
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 SubmittersRCV000503882RCV000758310RCV005004195
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 SubmittersRCV001226304RCV000513535RCV005010461
NM_004618.5(TOP3A):c.403C>T (p.Arg135Ter) SNV
Germline		 Chr17:18305208 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
Mitochondrial disease
Condition: not provided		 Criteria Provided
Single Submitter
 CA8430230 rs_200944917

3 SubmittersRCV000678503RCV000627803RCV005091177
NM_004618.5(TOP3A):c.298A>G (p.Met100Val) SNV
Germline		 Chr17:18308367 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
Condition: not provided
Mitochondrial disease		 Criteria Provided
Single Submitter
 CA8430293 rs_376902371

3 SubmittersRCV000678502RCV005091176RCV000627802
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 SubmittersRCV000518474RCV000695266RCV000844909RCV002438244RCV005010475RCV005431726
NM_080916.3(DGUOK):c.195G>A (p.Trp65Ter) SNV
Germline		 Chr2:73938962 Pathogenic Condition: not provided
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
Portal hypertension, noncirrhotic, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1718193 rs_140307681

4 SubmittersRCV000524017RCV005034066
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 SubmittersRCV000544202RCV001584248RCV005004219
NM_021830.5(TWNK):c.1244-14C>T SNV
Germline		 Chr10:100989630 Conflicting classifications of pathogenicity not specified
Autosomal recessive cerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Infantile onset spinocerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5653201 rs_758757135

3 SubmittersRCV000616455RCV001108147RCV001108144RCV001108145RCV001108146RCV005056278
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 SubmittersRCV000623937RCV000765236RCV004546534RCV003626635RCV005004274RCV004689813
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 SubmittersRCV000685758RCV003352982RCV005010677RCV005409716
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 SubmittersRCV000758418RCV002312352RCV003151809RCV005010726RCV004783847
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 SubmittersRCV000729789RCV005004391
NM_002693.3(POLG):c.2669A>C (p.Asp890Ala) SNV
Germline		 Chr15:89321190 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Criteria Provided
Single Submitter
 CA10602238 rs_1567186779

1 SubmittersRCV000758456
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 SubmittersRCV000758273RCV005004399
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 SubmittersRCV000758488RCV005004402
NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro) SNV
Germline		 Chr10:100989280 Pathogenic/Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA378209783 rs_758026634

4 SubmittersRCV000779014RCV003222127
NM_004618.5(TOP3A):c.1723A>G (p.Met575Val) SNV
Germline		 Chr17:18285296 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8429792 rs_372121045

2 SubmittersRCV000787955RCV003362937
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 SubmittersRCV000812598RCV003882733
NM_021830.5(TWNK):c.1422G>C (p.Trp474Cys) SNV
Germline		 Chr10:100989822 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA378210872 rs_111033574

2 SubmittersRCV000855769RCV002536207
NM_002693.3(POLG):c.2678C>T (p.Ser893Phe) SNV
Germline		 Chr15:89321181 Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Criteria Provided
Single Submitter
 CA393753686 rs_1596352300

1 SubmittersRCV000855754
NM_004618.5(TOP3A):c.2317A>G (p.Asn773Asp) SNV
Germline		 Chr17:18278185 Conflicting classifications of pathogenicity Condition: not provided
Microcephaly, growth restriction, and increased sister chromatid exchange 2
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
TOP3A-related disorder
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA8429619 rs_9911283

4 SubmittersRCV000889791RCV002501453RCV004550068RCV004962912
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 SubmittersRCV000992691RCV000989379RCV002468611RCV005012416
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 SubmittersRCV001065150RCV003514462
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 SubmittersRCV001093440RCV002554873RCV002555968RCV001847155RCV003155359RCV005005036
NM_021830.5(TWNK):c.672T>C (p.Ala224=) SNV
Germline		 Chr10:100988882 Conflicting classifications of pathogenicity Infantile onset spinocerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Autosomal recessive cerebellar ataxia
Condition: not provided
TWNK-related disorder		 Criteria Provided
Conflicting Classifications
 CA5653099 rs_368863664

4 SubmittersRCV001105818RCV001105817RCV001105819RCV001108045RCV002069743RCV004538327
NM_021830.5(TWNK):c.1572C>T (p.His524=) SNV
Germline		 Chr10:100990523 Conflicting classifications of pathogenicity Infantile onset spinocerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Autosomal recessive cerebellar ataxia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5653268 rs_774091248

2 SubmittersRCV001102927RCV001102928RCV001102929RCV001102926RCV003718320
NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr) SNV
Germline		 Chr10:100990873 Conflicting classifications of pathogenicity Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Infantile onset spinocerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Autosomal recessive cerebellar ataxia
Perrault syndrome 5
Infantile onset spinocerebellar ataxia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5653292 rs_139124415

4 SubmittersRCV001105994RCV001105993RCV001105995RCV001105996RCV001839029RCV002555039
NM_021830.5(TWNK):c.1953G>A (p.Lys651=) SNV
Germline		 Chr10:100993408 Conflicting classifications of pathogenicity Infantile onset spinocerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Autosomal recessive cerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5653372 rs_771310512

2 SubmittersRCV001104947RCV001104946RCV001104944RCV001104945RCV003106115
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 SubmittersRCV001121336RCV002491375RCV001856597RCV002466625RCV003322852
NM_015713.4(RRM2B):c.-101G>A SNV
Germline		 Chr8:102238975 Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 8a
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		 Criteria Provided
Conflicting Classifications
 CA182483814 rs_374844049

1 SubmittersRCV001160047RCV001161455
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 SubmittersRCV001208687RCV002274145RCV005012609
NM_004614.5(TK2):c.659T>C (p.Leu220Pro) SNV
Germline		 Chr16:66513771 Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, myopathic form
Condition: not provided
Inborn mitochondrial myopathy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
Mitochondrial DNA depletion syndrome, myopathic form
not specified
Mitochondrial disease		 Criteria Provided
Conflicting Classifications
 CA396187178 rs_1168827071

6 SubmittersRCV001249198RCV001879750RCV002223138RCV005012691RCV004587092RCV005359999
NM_021830.5(TWNK):c.649C>T (p.Arg217Ter) SNV
Germline		 Chr10:100988859 Pathogenic/Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA378207945 rs_1382829987

2 SubmittersRCV001253009RCV005057162
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 SubmittersRCV001336496RCV002466665RCV005408842RCV005005832
NM_007215.4(POLG2):c.1030C>T (p.Arg344Ter) SNV
Germline		 Chr17:64485808 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA400638063 rs_782004592

3 SubmittersRCV002512479RCV005058888
NM_004614.5(TK2):c.623A>G (p.Tyr208Cys) SNV
Germline		 Chr16:66513807 Pathogenic/Likely pathogenic Condition: not provided
Mitochondrial DNA depletion syndrome, myopathic form
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
Mitochondrial disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA396187352 rs_1964523180

4 SubmittersRCV001551699RCV005005959RCV005361660
NM_021830.5(TWNK):c.907C>T (p.Arg303Trp) SNV
Germline		 Chr10:100989117 Pathogenic/Likely pathogenic Condition: not provided
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA378208813 rs_1159929268

4 SubmittersRCV001581548RCV004785286
NM_004614.5(TK2):c.588A>T (p.Arg196Ser) SNV
Germline		 Chr16:66517166 Conflicting classifications of pathogenicity not specified
Condition: not provided
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
Mitochondrial DNA depletion syndrome, myopathic form
Mitochondrial disease		 Criteria Provided
Conflicting Classifications
 CA8093625 rs_752949191

5 SubmittersRCV001582354RCV002579472RCV005005978RCV005361679
NM_015713.5(RRM2B):c.48+48C>T SNV
Germline		 Chr8:102238779 Conflicting classifications of pathogenicity Condition: not provided
Mitochondrial DNA depletion syndrome 8a
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
RRM2B-related disorder		 Criteria Provided
Conflicting Classifications
 CA4831262 rs_201028777

5 SubmittersRCV001666121RCV002506719RCV003921316
NM_080916.3(DGUOK):c.235C>T (p.Gln79Ter) SNV
Germline		 Chr2:73939002 Pathogenic Condition: not provided
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
Portal hypertension, noncirrhotic, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA50404364 rs_940941896

2 SubmittersRCV001781641RCV005023254
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 SubmittersRCV001824510RCV003626691RCV005006083
NM_007215.4(POLG2):c.775C>T (p.Arg259Ter) SNV
Germline		 Chr17:64492687 Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 16 (hepatic type)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8712924 rs_782006396

2 SubmittersRCV001839326RCV003560869
NM_004614.5(TK2):c.1A>T (p.Met1Leu) SNV
Germline		 Chr16:66550061 Pathogenic Condition: not provided
Mitochondrial DNA depletion syndrome, myopathic form
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA282199529 rs_973152588

2 SubmittersRCV001991686RCV005008381
NM_015713.5(RRM2B):c.455+1G>A SNV
Germline		 Chr8:102224884 Likely pathogenic Condition: not provided
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
Mitochondrial DNA depletion syndrome 8a
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction		 Criteria Provided
Multiple Submitters
No Conflicts
 CA371592168 rs_2132555188

2 SubmittersRCV002049688RCV002498084
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 SubmittersRCV001939367RCV005006313
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 SubmittersRCV001970028RCV003490974
NM_080916.3(DGUOK):c.444-62C>A SNV
Germline		 Chr2:73950523 Pathogenic/Likely pathogenic Condition: not provided
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Portal hypertension, noncirrhotic, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA1032235572 rs_528587600

3 SubmittersRCV001909174RCV004587246RCV005023417
NM_004614.5(TK2):c.367C>G (p.Arg123Gly) SNV
Germline		 Chr16:66531388 Conflicting classifications of pathogenicity Condition: not provided
Mitochondrial disease
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
Mitochondrial DNA depletion syndrome, myopathic form		 Criteria Provided
Conflicting Classifications
 CA8093704 rs_753881948

3 SubmittersRCV002135844RCV005361978RCV005017151
NM_021830.5(TWNK):c.1433T>G (p.Phe478Cys) SNV
Germline		 Chr10:100989833 Pathogenic/Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA378210895 rs_2133939892

2 SubmittersRCV002250853RCV003094071
NM_002693.3(POLG):c.2287G>A (p.Gly763Arg) SNV
Germline		 Chr15:89322881 Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Criteria Provided
Single Submitter
 CA393756559 rs_1567187837

1 SubmittersRCV002291441
NM_021830.5(TWNK):c.1111C>T (p.Arg371Trp) SNV
Germline		 Chr10:100989321 Conflicting classifications of pathogenicity Condition: not provided
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3		 Criteria Provided
Conflicting Classifications
 CA5653166 rs_374735277

2 SubmittersRCV002694807RCV005233003
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 SubmittersRCV002715795RCV003482419RCV005008709
NM_021830.5(TWNK):c.718C>T (p.Arg240Ter) SNV
Germline		 Chr10:100988928 Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 Criteria Provided
Single Submitter
 CA212962980 rs_757838397

1 SubmittersRCV003123518
NM_001033.5(RRM1):c.1142G>A (p.Arg381His) SNV
Germline		 Chr11:4123206 Likely pathogenic RRM1-related disorder
Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6		 Criteria Provided
Multiple Submitters
No Conflicts
 CA379207299 rs_2094584404

3 SubmittersRCV003153041RCV003447337
NM_001033.5(RRM1):c.1141C>T (p.Arg381Cys) SNV
Germline		 Chr11:4123205 Pathogenic Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 No Assertion Criteria Provided
 CA5830984 rs_141634151

1 SubmittersRCV003447444
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 SubmittersRCV003471718RCV005003644
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 SubmittersRCV003626199RCV005407216RCV005003692
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 SubmittersRCV003627176RCV005013134
NM_015713.5(RRM2B):c.158G>A (p.Trp53Ter) SNV
Germline		 Chr8:102232195 Pathogenic Condition: not provided
RRM2B-related disorder
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4831181 rs_768498594

3 SubmittersRCV003828936RCV004756549RCV004787061
NM_004618.5(TOP3A):c.614A>G (p.Asp205Gly) SNV
Germline		 Chr17:18302609 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 No Assertion Criteria Provided
 CA398638312 rs_1181170417

1 SubmittersRCV003890773
NM_021830.5(TWNK):c.827C>T (p.Thr276Met) SNV
Germline		 Chr10:100989037 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 Criteria Provided
Conflicting Classifications
 CA378208638 rs_1415664013

2 SubmittersRCV003989938
NM_002693.3(POLG):c.2863T>C (p.Tyr955His) SNV
Germline		 Chr15:89320884 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 No Assertion Criteria Provided

1 SubmittersRCV004759350
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 SubmittersRCV004574589RCV005006440
NC_012920.1(MT-TI):m.4275G>A SNV
Germline		 ChrMT:4275 Pathogenic Progressive external ophthalmoplegia Criteria Provided
Single Submitter

1 SubmittersRCV005000558
NC_012920.1(MT-TY):m.5828G>A SNV
Germline		 ChrMT:5828 Pathogenic Progressive external ophthalmoplegia Criteria Provided
Single Submitter

1 SubmittersRCV005000560
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 SubmittersRCV004689538RCV005103537RCV005006494
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 SubmittersRCV004699991RCV005006501
NM_007215.4(POLG2):c.1110+2T>A SNV
Germline		 Chr17:64485726 Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 Criteria Provided
Single Submitter

1 SubmittersRCV004771736
NM_004618.5(TOP3A):c.865C>T (p.Arg289Ter) SNV
Germline		 Chr17:18301935 Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
Microcephaly, growth restriction, and increased sister chromatid exchange 2		 Criteria Provided
Single Submitter

1 SubmittersRCV004797329
NM_021830.5(TWNK):c.1399C>T (p.Gln467Ter) SNV
Germline		 Chr10:100989799 Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Infantile onset spinocerebellar ataxia
Perrault syndrome 5		 Criteria Provided
Single Submitter

1 SubmittersRCV004797410
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_015713.5(RRM2B):c.168T>A (p.Tyr56Ter) SNV
Germline		 Chr8:102232185 Likely pathogenic Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
Mitochondrial DNA depletion syndrome 8a
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		 Criteria Provided
Single Submitter

1 SubmittersRCV005048129
NM_015713.5(RRM2B):c.40C>T (p.Gln14Ter) SNV
Germline		 Chr8:102238835 Likely pathogenic Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
Mitochondrial DNA depletion syndrome 8a
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		 Criteria Provided
Single Submitter

1 SubmittersRCV005036001
NM_002693.3(POLG):c.2841A>C (p.Lys947Asn) SNV
Germline		 Chr15:89320906 Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Criteria Provided
Single Submitter

1 SubmittersRCV005233206
NM_007215.4(POLG2):c.1192-1G>A SNV
Germline		 Chr17:64480390 Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Mitochondrial DNA depletion syndrome 16 (hepatic type)
Mitochondrial dna depletion syndrome 16B (neuroophthalmic type)		 Criteria Provided
Single Submitter

1 SubmittersRCV005356689
NM_004614.5(TK2):c.643C>A (p.Leu215Ile) SNV
Germline		 Chr16:66513787 Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
Mitochondrial DNA depletion syndrome, myopathic form		 Criteria Provided
Single Submitter

1 SubmittersRCV005410365
NM_004614.5(TK2):c.331A>G (p.Thr111Ala) SNV
Germline		 Chr16:66531424 Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, myopathic form
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
Mitochondrial DNA depletion syndrome, myopathic form		 Criteria Provided
Conflicting Classifications

1 SubmittersRCV005410384RCV005410385
NM_021830.5(TWNK):c.945G>T (p.Trp315Cys) SNV
Germline		 Chr10:100989155 Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 Criteria Provided
Single Submitter

1 SubmittersRCV005413393
NM_021830.5(TWNK):c.997G>A (p.Val333Met) SNV
Germline		 Chr10:100989207 Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 Criteria Provided
Single Submitter

1 SubmittersRCV005413395
NM_021830.5(TWNK):c.1363A>G (p.Met455Val) SNV
Germline		 Chr10:100989763 Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 Criteria Provided
Single Submitter

1 SubmittersRCV005413396
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