Total 133 pathogenic variants reported for Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 
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.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.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_002693.3(POLG):c.1399G>A (p.Ala467Thr) SNV
Germline		 Chr15:89327201 Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Spinocerebellar ataxia with epilepsy
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Condition: not provided
POLG-related disorder
Mitochondrial disease
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Tip-toe gait
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Neurodevelopmental delay
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Hereditary spastic paraplegia
Inborn genetic diseases
Intellectual disability
See cases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA123140 rs_113994095

52 SubmittersRCV000014440RCV000014441RCV000014442RCV000014443RCV000184011RCV000188658RCV000347876RCV000508942RCV001004604RCV001198082RCV001376079RCV001731286RCV002273931RCV001813983RCV001847600RCV002316195RCV005624689RCV005887499
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
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Mitochondrial DNA depletion syndrome 4b
POLG-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA256883 rs_121918044

20 SubmittersRCV000014444RCV000188648RCV000626287RCV000762954RCV001266602RCV005007843RCV006439570RCV006439571
NM_002693.3(POLG):c.1879C>T (p.Arg627Trp) SNV
Germline		 Chr15:89325520 Pathogenic Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Condition: not provided
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome
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
 CA256887 rs_121918046

6 SubmittersRCV000014446RCV001781264RCV001382679RCV004579531RCV005003357
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
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
Mitochondrial disease		 Criteria Provided
Multiple Submitters
No Conflicts
 CA256891 rs_121918048

7 SubmittersRCV000014454RCV000758263RCV001797046RCV004700232RCV005007844RCV004786259
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
Progressive sclerosing poliodystrophy
POLG-related disorder
See cases
Autosomal dominant non-syndromic intellectual disability
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA256893 rs_121918049

12 SubmittersRCV000014455RCV000188604RCV000226986RCV000778451RCV002251905RCV004760332RCV005007845
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 disorder
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
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
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Hereditary spastic paraplegia
Mitochondrial disease
Inborn genetic diseases
Mitochondrial DNA depletion syndrome
6 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA123144 rs_113994098

38 SubmittersRCV000014449RCV000014450RCV000014451RCV000014452RCV000188580RCV000363602RCV000678386RCV001027839RCV002054437RCV001847601RCV002272018RCV002313707RCV003230362RCV005364878
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
Mitochondrial DNA depletion syndrome 1
Progressive sclerosing poliodystrophy
Condition: not provided
not specified
POLG-related disorder
Global developmental delay
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Tip-toe gait
Abnormality of the nervous system
Inborn genetic diseases
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial disease
Hypertrophic cardiomyopathy
Hereditary spastic paraplegia
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
See cases
Mitochondrial DNA depletion syndrome
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
6 conditions		 Criteria Provided
Conflicting Classifications
 CA123142 rs_113994094

51 SubmittersRCV000014448RCV000014447RCV000020484RCV000184009RCV000188641RCV000194055RCV000262479RCV000415105RCV001004407RCV001678594RCV001813985RCV002313708RCV001642225RCV002272019RCV002319423RCV001847602RCV003458331RCV004584325RCV005406744RCV005007846RCV005357125
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
Progressive sclerosing poliodystrophy
Condition: not provided
Mitochondrial disease
Global developmental delay
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Tip-toe gait
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Abnormality of the nervous system
Inborn genetic diseases
Hereditary spastic paraplegia
Hypertrophic cardiomyopathy
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
See cases
6 conditions
POLG-related disorder		 Criteria Provided
Conflicting Classifications
 CA123146 rs_113994096

52 SubmittersRCV000014456RCV000020473RCV000186576RCV000193529RCV000408293RCV000427845RCV000508752RCV000415307RCV001004602RCV001610290RCV001642226RCV001813986RCV002313709RCV001847603RCV002319424RCV003458332RCV004584326RCV005357126RCV006439572
NM_002693.3(POLG):c.2591A>G (p.Asn864Ser) SNV
Germline		 Chr15:89321743 Pathogenic Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome
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
 CA123148 rs_121918050

4 SubmittersRCV000014458RCV002513043RCV004586006RCV005007847
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
not specified
POLG-related disorder
Mitochondrial disease
Mitochondrial DNA depletion syndrome 4b
Inborn genetic diseases
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
6 conditions
Acute rhabdomyolysis
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA123150 rs_113994097

43 SubmittersRCV000014459RCV000014460RCV000014461RCV000080023RCV000507757RCV000313739RCV000508846RCV001198081RCV002313710RCV002247336RCV005364879RCV005865180RCV005007848
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
Mitochondrial DNA depletion syndrome
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
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		 Criteria Provided
Conflicting Classifications
 CA256899 rs_121918053

7 SubmittersRCV000014466RCV000560575RCV001449754RCV003330388RCV003333951RCV005007849
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
Condition: not provided
POLG-related disorder
Progressive sclerosing poliodystrophy
Mitochondrial disease
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Inborn genetic diseases
Hereditary spastic paraplegia
Tip-toe gait
6 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA201029 rs_121918054

37 SubmittersRCV000014467RCV000188568RCV000370280RCV000233045RCV000508744RCV000768053RCV001004601RCV001813987RCV002316196RCV001847605RCV003318542RCV005862713
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
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
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA123154 rs_121918056

12 SubmittersRCV000014469RCV000255169RCV000525480RCV000787362RCV002513044RCV005007850RCV004586007
NM_198859.4(PRICKLE2):c.1813G>T (p.Val605Phe) SNV
Germline		 Chr3:64099773 Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 5
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA129419 rs_387906989

5 SubmittersRCV000023710RCV000679893RCV002247388RCV004555849
NM_021830.5(TWNK):c.639C>T (p.Gly213=) SNV
Germline		 Chr10:100988849 Conflicting classifications of pathogenicity not specified
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Infantile onset spinocerebellar ataxia
Autosomal recessive cerebellar ataxia
Condition: not provided
Hereditary spastic paraplegia		 Criteria Provided
Conflicting Classifications
 CA302706 rs_11542130

8 SubmittersRCV000173516RCV000301625RCV000359159RCV000305599RCV000395926RCV000676300RCV001847741
NM_021830.5(TWNK):c.1735-14C>A SNV
Germline		 Chr10:100993176 Conflicting classifications of pathogenicity not specified
Infantile onset spinocerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Autosomal recessive cerebellar ataxia
Condition: not provided
Ovarian serous cystadenocarcinoma
Familial cancer of breast		 Criteria Provided
Conflicting Classifications
 CA289762 rs_201795189

5 SubmittersRCV000124046RCV000314586RCV000335702RCV000369307RCV000396649RCV002055436RCV005890591RCV005890590
NM_002693.3(POLG):c.2601T>C (p.Pro867=) SNV
Germline		 Chr15:89321258 Conflicting classifications of pathogenicity not specified
POLG-related disorder
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
Condition: not provided
Progressive sclerosing poliodystrophy		 Criteria Provided
Conflicting Classifications
 CA292834 rs_201749977

7 SubmittersRCV000127526RCV000403402RCV000709782RCV000734626RCV001457683
NM_002693.3(POLG):c.3482+6C>T SNV
Germline		 Chr15:89318535 Conflicting classifications of pathogenicity not specified
POLG-related disorder
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
Hereditary spastic paraplegia
Mitochondrial DNA depletion syndrome 4b		 Criteria Provided
Conflicting Classifications
 CA292847 rs_55779802

10 SubmittersRCV000127539RCV000316461RCV000559092RCV000726414RCV000768049RCV001847754RCV003441747
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
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
Inborn genetic diseases
POLG-related disorder
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		 Criteria Provided
Conflicting Classifications
 CA302712 rs_147407423

14 SubmittersRCV000173762RCV000538134RCV000710183RCV000768055RCV002313026RCV006439693RCV004799186
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) SNV
Germline		 Chr15:89330133 Conflicting classifications of pathogenicity not specified
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
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
POLG-related disorder
Hereditary spastic paraplegia
Inborn genetic diseases
Tip-toe gait
Charcot-Marie-Tooth disease axonal type 2U		 Criteria Provided
Conflicting Classifications
 CA202319 rs_61752784

21 SubmittersRCV000177165RCV000233823RCV000415771RCV000768291RCV001121511RCV001847817RCV002312719RCV002227084RCV002516726
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
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
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		 Criteria Provided
Conflicting Classifications
 CA316758 rs_368435864

9 SubmittersRCV000188614RCV000551933RCV002314742RCV003479051RCV005003545
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys) SNV
Germline		 Chr15:89318737 Likely pathogenic Condition: not provided
Progressive sclerosing poliodystrophy
6 conditions
Childhood myocerebrohepatopathy spectrum
Mitochondrial disease
Abnormality of the nervous system
Mitochondrial DNA depletion syndrome 4b
Recessive mitochondrial ataxia syndrome
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
POLG-related disorder
Mitochondrial DNA depletion syndrome		 Reviewed By Expert Panel
 CA316756 rs_201732356

17 SubmittersRCV000188613RCV000758420RCV000762952RCV001263172RCV001753588RCV001814095RCV003984830RCV004798801RCV005252129RCV006439742RCV004700573
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
Spinocerebellar ataxia with epilepsy
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome
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
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
6 conditions		 Criteria Provided
Conflicting Classifications
 CA316740 rs_181860632

20 SubmittersRCV000188603RCV000633548RCV001808470RCV002247605RCV002317146RCV003483565RCV005418005RCV006439740RCV004796081RCV005365111
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 disorder
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Malignant lymphoma, large B-cell, diffuse
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
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Cervical cancer		 Criteria Provided
Conflicting Classifications
 CA316596 rs_551708243

14 SubmittersRCV000551001RCV000710186RCV000765239RCV001121338RCV001332169RCV005892194RCV004955314RCV005361098RCV005892193
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
not specified
Inborn genetic diseases
Hereditary spastic paraplegia
MELAS syndrome
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
POLG-related disorder
Mitochondrial disease
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
6 conditions
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
Conflicting Classifications
 CA316719 rs_201477273

24 SubmittersRCV000188591RCV000490261RCV000633558RCV000984890RCV002247604RCV002317145RCV001847830RCV003232987RCV003992217RCV006439738RCV006249604RCV004796080RCV005361099RCV006249368
NM_002693.3(POLG):c.2420G>A (p.Arg807His) SNV
Germline		 Chr15:89322748 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
 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 disorder
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
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		 Criteria Provided
Conflicting Classifications
 CA316685 rs_202037973

14 SubmittersRCV000188572RCV000758416RCV001270867RCV002514034RCV005008114RCV004799198
NM_002693.3(POLG):c.2021G>A (p.Gly674Asp) SNV
Germline		 Chr15:89324156 Conflicting classifications of pathogenicity 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
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
POLG-related disorder
Condition: not provided
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA316585 rs_200257554

9 SubmittersRCV000188510RCV000633561RCV000768054RCV001121414RCV001721213RCV002317140
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
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		 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
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Hereditary spastic paraplegia
not specified		 Criteria Provided
Conflicting Classifications
 CA316846 rs_367610201

6 SubmittersRCV000188667RCV001348402RCV001814096RCV001847837RCV003226244
NM_002693.3(POLG):c.1716G>A (p.Trp572Ter) SNV
Germline		 Chr15:89325683 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
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
POLG-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA316842 rs_767709505

4 SubmittersRCV000188664RCV002517886RCV005008118RCV006439750
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) SNV
Germline		 Chr15:89327198 Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy
Lennox-Gastaut syndrome
Condition: not provided
6 conditions
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
POLG-related disorder
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Hereditary spastic paraplegia
Inborn genetic diseases
not specified
Mitochondrial disease
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		 Criteria Provided
Conflicting Classifications
 CA316834 rs_145843073

25 SubmittersRCV000470781RCV000678827RCV000658725RCV000763995RCV001027840RCV001117972RCV001004603RCV001330959RCV001847836RCV002314743RCV003230444RCV004786516RCV004799199
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys) SNV
Germline		 Chr15:89328699 Conflicting classifications of pathogenicity Condition: not provided
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
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
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
POLG-related disorder		 Criteria Provided
Conflicting Classifications
 CA316821 rs_199759055

13 SubmittersRCV000188650RCV000660573RCV000758259RCV003989500RCV006249369RCV005008117RCV006439748
NM_002693.3(POLG):c.862C>T (p.Arg288Cys) SNV
Germline		 Chr15:89329104 Conflicting classifications of pathogenicity Condition: not provided
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
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
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Hereditary spastic paraplegia
Tip-toe gait
Inborn genetic diseases
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
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
6 conditions
Sarcoma
Lung cancer		 Criteria Provided
Conflicting Classifications
 CA316810 rs_138929605

20 SubmittersRCV000188643RCV000231645RCV000616176RCV001004406RCV001847834RCV002226693RCV002514036RCV003235111RCV005008116RCV005396564RCV005892195RCV005892196
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 disorder
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Inborn genetic diseases
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
not specified
6 conditions		 Criteria Provided
Conflicting Classifications
 CA316806 rs_147282197

18 SubmittersRCV000633538RCV000678826RCV000710188RCV001121513RCV001263148RCV002362986RCV001808471RCV003317141RCV005396563
NM_002693.3(POLG):c.428C>T (p.Ala143Val) SNV
Germline		 Chr15:89333327 Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy
POLG-related disorder
Condition: not provided
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA316798 rs_796052899

8 SubmittersRCV000758269RCV000779176RCV000995420RCV002288792
NM_002693.3(POLG):c.328C>T (p.His110Tyr) SNV
Germline		 Chr15:89333427 Conflicting classifications of pathogenicity 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
not specified
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA316877 rs_139599587

10 SubmittersRCV000461638RCV000727081RCV000768048RCV001804925RCV002317148
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) SNV
Germline		 Chr10:100989406 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
Condition: not provided
Perrault syndrome		 Criteria Provided
Conflicting Classifications
 CA324207 rs_863223921

7 SubmittersRCV000578276RCV001105895RCV001105894RCV001105893RCV001722090RCV002515383
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg) SNV
Germline		 Chr10:100990973 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
TWNK-related disorder		 Criteria Provided
Conflicting Classifications
 CA323752 rs_116046810

5 SubmittersRCV000199218RCV000284653RCV000300073RCV000339690RCV000402465RCV000909034RCV004530166
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
Condition: not provided
Perrault syndrome 5
Infantile onset spinocerebellar ataxia
Perrault syndrome 5		 Criteria Provided
Conflicting Classifications
 CA324977 rs_370814108

6 SubmittersRCV000326494RCV000267823RCV000322888RCV000381173RCV000712523RCV001838991RCV004558440
NM_021830.5(TWNK):c.2045G>A (p.Arg682His) SNV
Germline		 Chr10:100993500 Conflicting classifications of pathogenicity Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Autosomal recessive cerebellar ataxia
Infantile onset spinocerebellar ataxia
Condition: not provided
Hereditary spastic paraplegia
TWNK-related disorder		 Criteria Provided
Conflicting Classifications
 CA323951 rs_182559752

7 SubmittersRCV000283282RCV000338208RCV000374204RCV000377740RCV000871398RCV001847877RCV004530167
NM_021830.5(TWNK):c.241C>G (p.Leu81Val) SNV
Germline		 Chr10:100988451 Conflicting classifications of pathogenicity Condition: not provided
Infantile onset spinocerebellar ataxia
Autosomal recessive cerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Hereditary spastic paraplegia
Clear cell carcinoma of kidney		 Criteria Provided
Conflicting Classifications
 CA5653043 rs_145068570

8 SubmittersRCV000320273RCV001107963RCV001107965RCV001107964RCV001102728RCV001848043RCV005895462
NM_002693.3(POLG):c.1433+1G>A SNV
Germline		 Chr15:89327166 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
POLG-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7724864 rs_771623994

6 SubmittersRCV000359026RCV000758422RCV005003603RCV006439905
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
Neonatal seizure
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
POLG-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7724495 rs_769827124

10 SubmittersRCV000261805RCV000547242RCV000626194RCV001263147RCV004819196RCV005008229RCV006439904
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro) SNV
Germline		 Chr15:89321007 Pathogenic/Likely pathogenic POLG-related disorder
Condition: not provided
Progressive sclerosing poliodystrophy
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Tip-toe gait
Mitochondrial DNA depletion syndrome 4b
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
6 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7724353 rs_139590686

16 SubmittersRCV000306622RCV000321917RCV000633543RCV001004600RCV001848045RCV004786646RCV005003601RCV005863079
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_021830.5(TWNK):c.-650A>G SNV
Germline		 Chr10:100987561 Conflicting classifications of pathogenicity Infantile onset spinocerebellar ataxia
Autosomal recessive cerebellar ataxia
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10627852 rs_187213541

2 SubmittersRCV000278960RCV000336415RCV000351651RCV000403866RCV002292507
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

4 SubmittersRCV000301666RCV000356457RCV000359896RCV000395193RCV003105861RCV004544498
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
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Autosomal recessive cerebellar ataxia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5653070 rs_775463083

3 SubmittersRCV000279300RCV000336716RCV000395922RCV000405350RCV002262948
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
Condition: not provided
Hereditary spastic paraplegia		 Criteria Provided
Conflicting Classifications
 CA5653164 rs_200798080

4 SubmittersRCV000281131RCV000316283RCV000338588RCV000373330RCV002059511RCV001848070
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_002693.3(POLG):c.2897T>G (p.Leu966Arg) SNV
Germline		 Chr15:89320850 Pathogenic/Likely pathogenic Condition: not provided
Progressive sclerosing poliodystrophy
POLG-related disorder
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		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7724330 rs_142347031

8 SubmittersRCV000413284RCV000821077RCV004800399RCV005010308
NM_021830.5(TWNK):c.1609T>C (p.Tyr537His) SNV
Germline		 Chr10:100990885 Conflicting classifications of pathogenicity Condition: not provided
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Infantile onset spinocerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Autosomal recessive cerebellar ataxia
Hereditary spastic paraplegia
not specified
TWNK-related disorder		 Criteria Provided
Conflicting Classifications
 CA5653294 rs_144001072

8 SubmittersRCV000726623RCV001105999RCV001106000RCV001105997RCV001105998RCV001848766RCV003993959RCV004533016
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
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
 CA7724686 rs_139717885

9 SubmittersRCV000438492RCV000758261RCV003147454RCV004022346RCV005010323
NM_002693.3(POLG):c.2125C>T (p.Arg709Ter) SNV
Germline		 Chr15:89323847 Pathogenic Condition: not provided
Progressive sclerosing poliodystrophy
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
POLG-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10602217 rs_867038717

5 SubmittersRCV000431312RCV000758415RCV005004154RCV006452636
NM_002693.3(POLG):c.3550G>A (p.Asp1184Asn) SNV
Germline		 Chr15:89317469 Pathogenic Condition: not provided
Mitochondrial disease
Progressive sclerosing poliodystrophy
Inborn genetic diseases
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Mitochondrial DNA depletion syndrome 4b
POLG-related disorder		 Reviewed By Expert Panel
 CA393747667 rs_1131691575

8 SubmittersRCV000493626RCV000508838RCV000814983RCV002527019RCV005010403RCV006443530
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

4 SubmittersRCV000489778RCV001107307RCV001107308RCV001107309RCV001107306
NM_002693.3(POLG):c.2869G>C (p.Ala957Pro) SNV
Germline		 Chr15:89320878 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
 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
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
 CA10602235 rs_1356604153

7 SubmittersRCV000503882RCV000758310RCV005004195RCV005860091
NM_002693.3(POLG):c.2605C>T (p.Arg869Ter) SNV
Germline		 Chr15:89321254 Pathogenic/Likely pathogenic Condition: not provided
Progressive sclerosing poliodystrophy
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7724393 rs_751376824

5 SubmittersRCV000513535RCV001226304RCV005010461
NM_002693.3(POLG):c.2665G>A (p.Ala889Thr) SNV
Germline		 Chr15:89321194 Conflicting classifications of pathogenicity Condition: not provided
Progressive sclerosing poliodystrophy
Inborn genetic diseases
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Mitochondrial DNA depletion syndrome 4b
Mitochondrial DNA depletion syndrome
POLG-related disorder		 Criteria Provided
Conflicting Classifications
 CA7724385 rs_763393580

10 SubmittersRCV000518474RCV000695266RCV002438244RCV005010475RCV005431726RCV006438176
NM_002693.3(POLG):c.1735C>T (p.Arg579Trp) SNV
Germline		 Chr15:89325664 Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy
Condition: not provided
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
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		 Criteria Provided
Conflicting Classifications
 CA7724698 rs_556925652

7 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
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
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		 Criteria Provided
Multiple Submitters
No Conflicts
 CA393750042 rs_1354582663

5 SubmittersRCV000623937RCV000765236RCV003626635RCV004546534RCV005004274RCV004689813
NM_002693.3(POLG):c.3151G>A (p.Gly1051Arg) SNV
Germline		 Chr15:89319053 Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy
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
Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7724222 rs_121918049

8 SubmittersRCV000685758RCV003352982RCV005010677RCV005409716RCV005630783
NM_002693.3(POLG):c.3104+3A>T SNV
Germline		 Chr15:89319225 Pathogenic Progressive sclerosing poliodystrophy
Inborn genetic diseases
Condition: not provided
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 dominant 1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7724256 rs_778573169

8 SubmittersRCV000758418RCV002312352RCV003151809RCV004783847RCV005010726
NM_002693.3(POLG):c.2209G>A (p.Gly737Arg) SNV
Germline		 Chr15:89323460 Conflicting classifications of pathogenicity Condition: not provided
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Progressive sclerosing poliodystrophy
Progressive sclerosing poliodystrophy		 Criteria Provided
Conflicting Classifications
 CA7724543 rs_121918054

3 SubmittersRCV000729789RCV005004391RCV006464115
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_002693.3(POLG):c.3630C>A (p.Tyr1210Ter) SNV
Germline		 Chr15:89317389 Pathogenic/Likely pathogenic Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
POLG-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA393747228 rs_139562274

2 SubmittersRCV000855761RCV006440165
NM_002693.3(POLG):c.2792T>G (p.Leu931Arg) SNV
Germline		 Chr15:89320955 Likely pathogenic Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Criteria Provided
Single Submitter
 CA393753097 rs_1484810169

1 SubmittersRCV000855755
NM_002693.3(POLG):c.844T>G (p.Tyr282Asp) SNV
Germline		 Chr15:89330092 Conflicting classifications of pathogenicity 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
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Condition: not provided
Mitochondrial DNA depletion syndrome 4b		 Criteria Provided
Conflicting Classifications
 CA10602301 rs_1290567099

5 SubmittersRCV000989379RCV005012416RCV000992691RCV002468611
NM_002693.3(POLG):c.1362G>T (p.Glu454Asp) SNV
Germline		 Chr15:89327238 Likely pathogenic Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Criteria Provided
Single Submitter
 CA393762018 rs_1596358408

1 SubmittersRCV000995843
NM_002693.3(POLG):c.868C>T (p.Arg290Cys) SNV
Germline		 Chr15:89329098 Conflicting classifications of pathogenicity Condition: not provided
Hereditary spastic paraplegia
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome
Inborn genetic diseases
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 SubmittersRCV001093440RCV001847155RCV002555968RCV003155359RCV002554873RCV005005036
NM_021830.5(TWNK):c.672T>C (p.Ala224=) SNV
Germline		 Chr10:100988882 Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Infantile onset spinocerebellar ataxia
Autosomal recessive cerebellar ataxia
Condition: not provided
TWNK-related disorder		 Criteria Provided
Conflicting Classifications
 CA5653099 rs_368863664

4 SubmittersRCV001105817RCV001105819RCV001105818RCV001108045RCV002069743RCV004538327
NM_021830.5(TWNK):c.1572C>T (p.His524=) SNV
Germline		 Chr10:100990523 Conflicting classifications of pathogenicity Autosomal recessive cerebellar ataxia
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Infantile onset spinocerebellar ataxia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5653268 rs_774091248

2 SubmittersRCV001102926RCV001102928RCV001102929RCV001102927RCV003718320
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
Infantile onset spinocerebellar ataxia
Perrault syndrome 5
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5653292 rs_139124415

5 SubmittersRCV001105994RCV001105993RCV001105995RCV001105996RCV001839029RCV002555039
NM_021830.5(TWNK):c.1953G>A (p.Lys651=) SNV
Germline		 Chr10:100993408 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
 CA5653372 rs_771310512

2 SubmittersRCV001104946RCV001104947RCV001104944RCV001104945RCV003106115
NM_002693.3(POLG):c.1252T>C (p.Cys418Arg) SNV
Germline		 Chr15:89327348 Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy
Neurodevelopmental delay
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
 CA7724888 rs_758112770

3 SubmittersRCV001208687RCV002274145RCV005012609
NM_002693.3(POLG):c.1251-2A>G SNV
Germline		 Chr15:89327351 Pathogenic Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		 Criteria Provided
Single Submitter
 CA393762953 rs_2055536585

2 SubmittersRCV001202188RCV004768907
NM_002693.3(POLG):c.2566G>A (p.Glu856Lys) SNV
Germline		 Chr15:89321768 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
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
not specified		 Criteria Provided
Conflicting Classifications
 CA274547255 rs_1032930719

5 SubmittersRCV001336496RCV002466665RCV005005832RCV005408842
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
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
 CA393767410 rs_2141806882

4 SubmittersRCV001824510RCV003626691RCV005006083
NM_002693.3(POLG):c.624C>A (p.Cys208Ter) SNV
Germline		 Chr15:89333131 Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA393770323 rs_1159974816

2 SubmittersRCV001918974RCV003502611
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
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		 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
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
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		 Criteria Provided
Multiple Submitters
No Conflicts
 CA393761144 rs_2055531147

2 SubmittersRCV001970028RCV003490974
NM_002693.3(POLG):c.2629A>G (p.Met877Val) SNV
Germline		 Chr15:89321230 Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		 Criteria Provided
Conflicting Classifications
 CA7724391 rs_754025885

2 SubmittersRCV002574468RCV005233091
NM_002693.3(POLG):c.178C>T (p.Gln60Ter) SNV
Germline		 Chr15:89333577 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
 CA393773862 rs_780379693

4 SubmittersRCV002715795RCV003482419RCV005008709
NM_002693.3(POLG):c.1837C>G (p.His613Asp) SNV
Germline		 Chr15:89325562 Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		 Criteria Provided
Conflicting Classifications
 CA393759261 rs_147407423

2 SubmittersRCV002917155RCV005233032
NM_002693.3(POLG):c.1356T>G (p.Tyr452Ter) SNV
Germline		 Chr15:89327244 Pathogenic Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		 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 disorder
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
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 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
 CA393765581 rs_2509262137

2 SubmittersRCV003627176RCV005013134
NM_002693.3(POLG):c.130C>T (p.Gln44Ter) SNV
Germline		 Chr15:89333625 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
 rs_2509277475

2 SubmittersRCV004574589RCV005006440
NM_002693.3(POLG):c.2755A>G (p.Met919Val) SNV
Germline		 Chr15:89320992 Likely pathogenic Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		 Criteria Provided
Single Submitter
 rs_1299487054

1 SubmittersRCV004574886
NM_002693.3(POLG):c.2768G>A (p.Gly923Asp) SNV
Germline		 Chr15:89320979 Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome
Progressive sclerosing poliodystrophy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
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
Conflicting Classifications

3 SubmittersRCV004689538RCV005006494RCV005103537
NM_002693.3(POLG):c.2902C>G (p.Gln968Glu) SNV
Germline		 Chr15:89320845 Conflicting classifications of pathogenicity 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

2 SubmittersRCV004699991RCV005006501
NM_002693.3(POLG):c.3104+3A>C SNV
Germline		 Chr15:89319225 Conflicting classifications of pathogenicity 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
Progressive sclerosing poliodystrophy		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005003299RCV006484624
NM_002693.3(POLG):c.2209G>T (p.Gly737Ter) SNV
Germline		 Chr15:89323460 Likely pathogenic Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
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 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
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 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
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 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
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 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
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 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1		 Criteria Provided
Single Submitter

1 SubmittersRCV005012121
NM_002693.3(POLG):c.2063G>A (p.Trp688Ter) SNV
Germline		 Chr15:89324114 Likely pathogenic Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Criteria Provided
Single Submitter

1 SubmittersRCV005233205
NM_002693.3(POLG):c.3483-3C>G SNV
Germline		 Chr15:89317539 Likely pathogenic Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis Criteria Provided
Single Submitter

1 SubmittersRCV005233207
NM_002693.3(POLG):c.3265C>T (p.Gln1089Ter) SNV
Germline		 Chr15:89318939 Likely pathogenic Progressive sclerosing poliodystrophy
Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1		 Criteria Provided
Single Submitter

1 SubmittersRCV005413231