Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NC_012920.1(MT-ND1):m.1624C>T	SNV Germline	ChrMT:1624	Pathogenic/Likely pathogenic	Leigh syndrome Juvenile myopathy, encephalopathy, lactic acidosis AND stroke LEIGH SYNDROME, MITOCHONDRIAL	Criteria Provided Multiple Submitters No Conflicts	CA120537	rs_199476144	4 SubmittersRCV000010158 RCV000850667 RCV004554592
m.5521G>A	SNV Germline	ChrMT:5521	Likely pathogenic	Inborn mitochondrial myopathy Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Mitochondrial disease	Reviewed By Expert Panel	CA254831	rs_199474673	7 SubmittersRCV000010166 RCV000850777 RCV002291209
m.5532G>A	SNV Germline	ChrMT:5532	Pathogenic	Neurogastrointestinal syndrome, mitochondrial Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Single Submitter	CA120542	rs_199474674	2 SubmittersRCV000010167 RCV002247284
m.12207G>A	SNV Germline	ChrMT:12207	Pathogenic	MERRF/MELAS overlap syndrome Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Single Submitter	CA120545	rs_118203889	3 SubmittersRCV000010173 RCV002247285
m.15967G>A	SNV Germline	ChrMT:15967	Pathogenic	MERFF syndrome Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Single Submitter	CA120550	rs_199474701	2 SubmittersRCV000010185 RCV000851158
NC_012920.1(MT-CYB):m.616T>C	SNV Germline	ChrMT:616	Likely pathogenic	Epilepsy, mitochondrial Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Interstitial nephritis Mitochondrial disease	Reviewed By Expert Panel	CA120552	rs_387906420	5 SubmittersRCV000010189 RCV000850644 RCV001804724 RCV002247290
NC_012920.1(MT-TK):m.8344A>G	SNV Germline	ChrMT:8344	Pathogenic	Leigh syndrome MERRF syndrome Parkinson disease, mitochondrial Condition: not provided Mitochondrial disease Juvenile myopathy, encephalopathy, lactic acidosis AND stroke MT-TK-related mitochondrial disorder MT-TK-related disorder	Reviewed By Expert Panel	CA254836	rs_118192098	13 SubmittersRCV000010193 RCV000010192 RCV000010194 RCV000224965 RCV000495310 RCV000850950 RCV001729345 RCV003492290
m.8356T>C	SNV Germline	ChrMT:8356	Likely pathogenic	MERRF/MELAS overlap syndrome MERRF syndrome Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Mitochondrial disease	Reviewed By Expert Panel	CA120554	rs_118192099	5 SubmittersRCV000010196 RCV000010195 RCV000850957 RCV003162231
NC_012920.1(MT-TK):m.8363G>A	SNV Germline	ChrMT:8363	Likely pathogenic	Cardiomyopathy and Deafness MERRF syndrome Leigh syndrome Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Mitochondrial disease	Reviewed By Expert Panel	CA120555	rs_118192100	5 SubmittersRCV000010197 RCV000192053 RCV000144004 RCV000850961 RCV003162232
NC_012920.1(MT-TL2):m.12315G>A	SNV Germline	ChrMT:12315	Likely pathogenic	Mitochondrial encephalomyopathy Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Mitochondrial disease	Reviewed By Expert Panel	CA120558	rs_121434462	3 SubmittersRCV000010203 RCV000851084 RCV003153297
NC_012920.1(MT-TL1):m.3243A>G	SNV Germline/somatic	ChrMT:3243	Pathogenic/Likely pathogenic	Age related macular degeneration 2 Mitochondrial complex IV deficiency, nuclear type 1 Muscle stiffness, painful Cyclical vomiting syndrome Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 3-methylglutaconic aciduria type 1 MERRF/MELAS overlap syndrome Diabetes-deafness syndrome maternally transmitted Leigh syndrome Condition: not provided Mitochondrial disease Sensorineural hearing loss disorder Glucose intolerance Short stature Stroke disorder Juvenile myopathy, encephalopathy, lactic acidosis AND stroke MERRF syndrome Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1 not specified See cases Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Leigh Syndrome (mtDNA mutation) Hypertrophic cardiomyopathy Diabetes-deafness syndrome maternally transmitted Auditory neuropathy spectrum disorder Cerebral palsy LEIGH SYNDROME, MITOCHONDRIAL	Criteria Provided Multiple Submitters No Conflicts	CA120560	rs_199474657	29 SubmittersRCV000010209 RCV000010211 RCV000010208 RCV000010210 RCV000010206 RCV000022901 RCV000022902 RCV000032997 RCV000143997 RCV000224855 RCV000495738 RCV000626561 RCV000763623 RCV002250458 RCV002285005 RCV002287327 RCV003325938 RCV003984803 RCV001794441 RCV004554593
NC_012920.1(MT-TL1):m.3271T>C	SNV Germline	ChrMT:3271	Pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke not specified MERRF syndrome Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Mitochondrial disease	Reviewed By Expert Panel	CA254839	rs_199474658	7 SubmittersRCV000010212 RCV000507161 RCV000763624 RCV003319163
NC_012920.1(MT-TL1):m.3256C>T	SNV Germline	ChrMT:3256	Likely pathogenic	MERRF syndrome Diabetes mellitus, noninsulin-dependent, maternally transmitted Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Mitochondrial disease	Reviewed By Expert Panel	CA120561	rs_199474659	4 SubmittersRCV000010213 RCV000010214 RCV000850697 RCV003153298
NC_012920.1(MT-TL1):m.3303C>T	SNV Germline	ChrMT:3303	Likely pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Mitochondrial disease MITOCHONDRIAL CARDIOMYOPATHY WITH OR WITHOUT SKELETAL MYOPATHY	Reviewed By Expert Panel	CA120562	rs_199474660	4 SubmittersRCV000850713 RCV003162234 RCV004554594
NC_012920.1(MT-TL1):m.3252A>G	SNV Germline	ChrMT:3252	Likely pathogenic	Mitochondrial encephalomyopathy Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Single Submitter	CA120564	rs_199474661	3 SubmittersRCV000010217 RCV000850692
m.3251A>G	SNV Germline	ChrMT:3251	Pathogenic	Progressive external ophthalmoplegia, proximal myopathy, and sudden death Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Multiple Submitters No Conflicts	CA120565	rs_199474662	3 SubmittersRCV000010218 RCV000850691
NC_012920.1(MT-TL1):m.3260A>G	SNV Germline	ChrMT:3260	Pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke MITOCHONDRIAL CARDIOMYOPATHY WITH OR WITHOUT SKELETAL MYOPATHY	Criteria Provided Single Submitter	CA120566	rs_199474663	3 SubmittersRCV000850698 RCV004554596
NC_012920.1(MT-TL1):m.3274A>G	SNV Germline	ChrMT:3274	Conflicting classifications of pathogenicity	Neuropsychiatric disorder and early-onset cataract Juvenile myopathy, encephalopathy, lactic acidosis AND stroke MERRF syndrome	Criteria Provided Conflicting Classifications	CA120568	rs_199474666	3 SubmittersRCV000010221 RCV000850703 RCV002288480
m.3242G>A	SNV Germline/somatic	ChrMT:3242	Pathogenic/Likely pathogenic	Myelodysplastic syndrome Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Multiple Submitters No Conflicts	CA280144	rs_193303018	3 SubmittersRCV000010223 RCV000850687
NC_012920.1(MT-TI):m.4295A>G	SNV Germline	ChrMT:4295	Conflicting classifications of pathogenicity	Primary familial hypertrophic cardiomyopathy Mitochondrial non-syndromic sensorineural hearing loss Condition: not provided not specified Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Conflicting Classifications	CA254841	rs_121434467	6 SubmittersRCV000010226 RCV000022900 RCV000224071 RCV000223744 RCV000850718
NC_012920.1(MT-TH):m.12147G>A	SNV Germline	ChrMT:12147	Likely pathogenic	MERRF/MELAS overlap syndrome Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Mitochondrial disease	Reviewed By Expert Panel	CA120576	rs_121434474	5 SubmittersRCV000010234 RCV000851013 RCV002247294
NC_012920.1(MT-TQ):m.4336T>C	SNV Germline	ChrMT:4336	Conflicting classifications of pathogenicity	Sensorineural deafness and migraine Condition: not provided Juvenile myopathy, encephalopathy, lactic acidosis AND stroke not specified	Criteria Provided Conflicting Classifications	CA340926	rs_41456348	4 SubmittersRCV000010239 RCV000224964 RCV000850736 RCV001288305
NC_012920.1(MT-TE):m.14709T>C	SNV Germline	ChrMT:14709	Likely pathogenic	Myopathy, mitochondrial, with diabetes mellitus Diabetes-deafness syndrome maternally transmitted Mitochondrial disease Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Inborn mitochondrial myopathy	Reviewed By Expert Panel	CA120580	rs_121434453	5 SubmittersRCV000010241 RCV000032996 RCV000495337 RCV000851098 RCV001089486
m.14674T>C	SNV Germline	ChrMT:14674	Likely pathogenic	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency Condition: not provided Mitochondrial disease Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Reviewed By Expert Panel	CA120581	rs_387906421	6 SubmittersRCV000010243 RCV000224954 RCV000495655 RCV000851087
NC_012920.1(MT-ND6):m.14453G>A	SNV Germline	ChrMT:14453	Likely pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Leigh syndrome Mitochondrial disease	Reviewed By Expert Panel	CA254853	rs_199476107	4 SubmittersRCV000010331 RCV000855109 RCV002260589
m.12770A>G	SNV Germline	ChrMT:12770	Pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	No Assertion Criteria Provided	CA254855	rs_267606894	2 SubmittersRCV000010339
m.13045A>C	SNV Germline	ChrMT:13045	Pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Leber optic atrophy Leigh syndrome due to mitochondrial complex I deficiency	No Assertion Criteria Provided	CA120629	rs_267606895	1 SubmittersRCV000010340 RCV000010341 RCV000010342
m.13084A>T	SNV Germline	ChrMT:13084	Pathogenic	Leigh syndrome due to mitochondrial complex I deficiency Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	No Assertion Criteria Provided	CA120631	rs_267606896	2 SubmittersRCV000010343 RCV000010344
NC_012920.1(MT-ND5):m.13513G>A	SNV Germline	ChrMT:13513	Pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Leigh syndrome due to mitochondrial complex I deficiency Leigh syndrome Condition: not provided Mitochondrial disease	Reviewed By Expert Panel	CA120632	rs_267606897	10 SubmittersRCV000010345 RCV000010346 RCV000144016 RCV000224472 RCV000494941
NC_012920.1(MT-ND5):m.13042G>A	SNV Germline	ChrMT:13042	Likely pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke MERRF syndrome Leigh syndrome due to mitochondrial complex I deficiency Leber optic atrophy Mitochondrial disease	Reviewed By Expert Panel	CA120633	rs_267606898	5 SubmittersRCV000010347 RCV000010348 RCV000010349 RCV000854885 RCV002260592
m.3697G>A	SNV Germline	ChrMT:3697	Likely pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Leber optic atrophy and dystonia Leber optic atrophy Mitochondrial disease 7 conditions	Reviewed By Expert Panel	CA120647	rs_199476122	6 SubmittersRCV000010385 RCV000010386 RCV000056168 RCV002221474 RCV003298030
NC_012920.1(MT-ND1):m.3946G>A	SNV Germline	ChrMT:3946	Pathogenic/Likely pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Leigh syndrome Leber optic atrophy	Criteria Provided Multiple Submitters No Conflicts	CA254862	rs_199476123	6 SubmittersRCV000010387 RCV000853718 RCV001542704
m.3949T>C	SNV Germline	ChrMT:3949	Pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	No Assertion Criteria Provided	CA254863	rs_199476124	2 SubmittersRCV000010388
m.12201T>C	SNV Germline	ChrMT:12201	Likely pathogenic	Mitochondrial non-syndromic sensorineural hearing loss Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Mitochondrial disease	Reviewed By Expert Panel	CA259740	rs_387906733	3 SubmittersRCV000022899 RCV000851039 RCV003319172
m.586G>A	SNV Germline	ChrMT:586	Pathogenic	Mitochondrial encephalopathy Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Single Submitter	CA128831	rs_387906734	2 SubmittersRCV000022903 RCV000850632
NC_012920.1(MT-ND1):m.3481G>A	SNV Germline	ChrMT:3481	Pathogenic	Leigh syndrome Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Single Submitter	CA345910	rs_587776433	2 SubmittersRCV000143999 RCV000853660
NC_012920.1(MT-ND5):m.13514A>G	SNV Germline	ChrMT:13514	Likely pathogenic	Leigh syndrome Mitochondrial disease Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Reviewed By Expert Panel	CA345918	rs_587776440	3 SubmittersRCV000144017 RCV002260618 RCV003333959
NM_005006.7(NDUFS1):c.758T>G (p.Val253Gly)	SNV Germline	Chr2:206145006	Likely pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Single Submitter	CA274773	rs_786205666	1 SubmittersRCV000170569
NC_012920.1:m.8969G>A	SNV Germline	ChrMT:8969	Likely pathogenic	Myopathy, lactic acidosis, and sideroblastic anemia 3 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Leber optic atrophy Mitochondrial disease	Reviewed By Expert Panel	CA199769	rs_794726857	4 SubmittersRCV000171545 RCV000854381 RCV002247579 RCV002260628
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)	SNV Germline	Chr15:89320857	Conflicting classifications of pathogenicity	Condition: not provided Mitochondrial DNA depletion syndrome 4b Progressive sclerosing poliodystrophy Progressive sclerosing poliodystrophy Spinocerebellar atrophy Mitochondrial DNA depletion syndrome 4b Hereditary spastic paraplegia not specified POLG-Related Spectrum Disorders Inborn genetic diseases Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1	Criteria Provided Conflicting Classifications	CA316719	rs_201477273	18 SubmittersRCV000188591 RCV000490261 RCV000633558 RCV000984890 RCV001808469 RCV001847830 RCV002247604 RCV002282023 RCV002317145 RCV003232987 RCV003992217
NC_012920.1(MT-TL1):m.3291T>C	SNV Germline	ChrMT:3291	Likely pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Mitochondrial disease	Reviewed By Expert Panel		rs_869312463	4 SubmittersRCV000850711 RCV002291215
NC_012920.1(MT-TQ):m.4388A>G	SNV Germline	ChrMT:4388	Conflicting classifications of pathogenicity	Condition: not provided Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Conflicting Classifications	CA10581310	rs_375986475	2 SubmittersRCV000224569 RCV000850756
NC_012920.1(MT-TH):m.12175T>C	SNV Germline	ChrMT:12175	Conflicting classifications of pathogenicity	Condition: not provided Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Conflicting Classifications	CA16603222	rs_1057520099	2 SubmittersRCV000426541 RCV000851027
NC_012920.1(MT-TH):m.12153C>T	SNV Germline	ChrMT:12153	Conflicting classifications of pathogenicity	Condition: not provided Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Conflicting Classifications	CA16603227	rs_376606918	2 SubmittersRCV000426740 RCV000851017
NM_002693.3(POLG):c.2584G>A (p.Ala862Thr)	SNV Germline	Chr15:89321750	Pathogenic/Likely pathogenic	Condition: not provided Progressive sclerosing poliodystrophy POLG-Related Spectrum Disorders Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Multiple Submitters No Conflicts	CA7724420	rs_778429780	6 SubmittersRCV000497335 RCV000758455 RCV003330728 RCV003232989
NC_012920.1(MT-TS2):m.12236G>A	SNV Germline	ChrMT:12236	Conflicting classifications of pathogenicity	not specified Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Condition: not provided	Criteria Provided Conflicting Classifications	CA337099418	rs_28359170	3 SubmittersRCV000506174 RCV000851053 RCV000992385
NC_012920.1(MT-CYB):m.1619C>T	SNV Germline	ChrMT:1619	Conflicting classifications of pathogenicity	Condition: not provided Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Conflicting Classifications		rs_1569483811	2 SubmittersRCV000756364 RCV000850665
NC_012920.1(MT-CYB):m.10406G>A	SNV Germline	ChrMT:10406	Pathogenic/Likely pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Mitochondrial disease	Criteria Provided Multiple Submitters No Conflicts		rs_1603222826	2 SubmittersRCV000850992 RCV002249544
NC_012920.1(MT-CYB):m.10408T>C	SNV Germline	ChrMT:10408	Likely pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Single Submitter		rs_1603222827	1 SubmittersRCV000850993
NC_012920.1(MT-CYB):m.10460T>C	SNV Germline	ChrMT:10460	Likely pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Single Submitter		rs_1603222848	1 SubmittersRCV000851006
NC_012920.1(MT-CYB):m.12148T>C	SNV Germline	ChrMT:12148	Likely pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Single Submitter		rs_1603223571	1 SubmittersRCV000851014
NC_012920.1(MT-CYB):m.12258C>T	SNV Germline	ChrMT:12258	Pathogenic/Likely pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Multiple Submitters No Conflicts		rs_118203888	2 SubmittersRCV000851064
NC_012920.1(MT-CYB):m.12264C>T	SNV Germline	ChrMT:12264	Pathogenic/Likely pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Multiple Submitters No Conflicts		rs_1603223642	2 SubmittersRCV000851065
NC_012920.1(MT-CYB):m.12276G>A	SNV Germline	ChrMT:12276	Likely pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Mitochondrial disease	Reviewed By Expert Panel		rs_1603223645	2 SubmittersRCV000851068 RCV003153875
NC_012920.1(MT-CYB):m.12278T>C	SNV Germline	ChrMT:12278	Conflicting classifications of pathogenicity	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Mitochondrial disease Diabetes-deafness syndrome maternally transmitted	Criteria Provided Conflicting Classifications		rs_1603223646	3 SubmittersRCV000851069 RCV003225132 RCV003986054
NC_012920.1(MT-CYB):m.12335T>C	SNV Germline	ChrMT:12335	Likely pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Single Submitter		rs_1603223668	1 SubmittersRCV000851086
NC_012920.1(MT-CYB):m.14739G>A	SNV Germline	ChrMT:14739	Pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Single Submitter		rs_1603224850	1 SubmittersRCV000851103
NC_012920.1(MT-CYB):m.15915G>A	SNV Germline	ChrMT:15915	Pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Single Submitter		rs_1603225588	1 SubmittersRCV000851125
NC_012920.1(MT-CYB):m.16002T>C	SNV Germline	ChrMT:16002	Pathogenic/Likely pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke MERRF syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1603225633	2 SubmittersRCV000851169 RCV002249545
NC_012920.1(MT-CYB):m.1644G>A	SNV Germline	ChrMT:1644	Likely pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Mitochondrial disease	Reviewed By Expert Panel		rs_587776441	4 SubmittersRCV000850677 RCV001796793
NC_012920.1(MT-CYB):m.1659T>C	SNV Germline	ChrMT:1659	Pathogenic/Likely pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Multiple Submitters No Conflicts		rs_1603218609	2 SubmittersRCV000850683
NC_012920.1(MT-TL1):m.3243A>T	SNV Germline	ChrMT:3243	Likely pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Mitochondrial disease	Reviewed By Expert Panel		rs_199474657	4 SubmittersRCV000850688 RCV003153872
NC_012920.1(MT-CYB):m.3255G>A	SNV Germline	ChrMT:3255	Pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Multiple Submitters No Conflicts		rs_1603218856	2 SubmittersRCV000850696
NC_012920.1(MT-CYB):m.3288A>G	SNV Germline	ChrMT:3288	Likely pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Single Submitter		rs_1603218872	1 SubmittersRCV000850709
NC_012920.1(MT-TL1):m.3302A>G	SNV Germline	ChrMT:3302	Likely pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Mitochondrial disease MITOCHONDRIAL SKELETAL MYOPATHY MITOCHONDRIAL CARDIOMYOPATHY WITH OR WITHOUT SKELETAL MYOPATHY	Reviewed By Expert Panel		rs_1603218878	4 SubmittersRCV000850712 RCV003153873 RCV004555600 RCV004555599
NC_012920.1(MT-CYB):m.4296G>A	SNV Germline	ChrMT:4296	Pathogenic/Likely pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke MERRF syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1603219393	2 SubmittersRCV000850719 RCV002249542
NC_012920.1(MT-CYB):m.4372C>T	SNV Germline	ChrMT:4372	Likely pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Single Submitter		rs_1603219429	1 SubmittersRCV000850746
NC_012920.1(MT-CYB):m.4437C>T	SNV Germline	ChrMT:4437	Likely pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Single Submitter		rs_1603219459	1 SubmittersRCV000850765
NC_012920.1(MT-CYB):m.5540G>A	SNV Germline	ChrMT:5540	Pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Multiple Submitters No Conflicts		rs_1603220014	2 SubmittersRCV000850786
NC_012920.1(MT-CYB):m.5543T>C	SNV Germline	ChrMT:5543	Pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Multiple Submitters No Conflicts		rs_1603220016	2 SubmittersRCV000850788
NC_012920.1(MT-CYB):m.578T>C	SNV Germline	ChrMT:578	Likely pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Single Submitter		rs_1603218446	1 SubmittersRCV000850630
NC_012920.1(MT-CYB):m.618T>C	SNV Germline	ChrMT:618	Pathogenic/Likely pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Mitochondrial disease	Criteria Provided Multiple Submitters No Conflicts		rs_1603218460	2 SubmittersRCV000850645 RCV002249541
NC_012920.1(MT-TD):m.7566G>A	SNV Germline	ChrMT:7566	Pathogenic/Likely pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Mitochondrial disease	Criteria Provided Multiple Submitters No Conflicts		rs_1603221016	2 SubmittersRCV000850923 RCV002249543
NC_012920.1(MT-CYB):m.8299G>A	SNV Germline	ChrMT:8299	Likely pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Single Submitter		rs_1603221391	1 SubmittersRCV000850937
NC_012920.1(MT-TK):m.8319A>G	SNV Germline	ChrMT:8319	Conflicting classifications of pathogenicity	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Kearns-Sayre syndrome	Criteria Provided Conflicting Classifications		rs_1603221401	2 SubmittersRCV000850944 RCV002290478
NC_012920.1(MT-CYB):m.8362T>G	SNV Germline	ChrMT:8362	Pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Multiple Submitters No Conflicts		rs_1603221423	2 SubmittersRCV000850960
NC_012920.1(MT-CYB):m.9997T>A	SNV Germline	ChrMT:9997	Likely pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Single Submitter		rs_121434475	1 SubmittersRCV000850967
NC_012920.1(MT-ND5):m.13046T>C	SNV Germline	ChrMT:13046	Likely pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Single Submitter		rs_1603224015	1 SubmittersRCV000854886
NC_012920.1:m.13094T>C	SNV Germline	ChrMT:13094	Pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Mitochondrial disease Leber optic atrophy	Reviewed By Expert Panel		rs_1603224029	4 SubmittersRCV000854891 RCV002291219 RCV002249552
NC_012920.1(MT-ND6):m.14465G>A	SNV Germline	ChrMT:14465	Likely pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Single Submitter		rs_1603224738	1 SubmittersRCV000855111
NC_012920.1(MT-ND1):m.3380G>A	SNV Germline	ChrMT:3380	Pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Single Submitter		rs_1603218926	1 SubmittersRCV000853646
NC_012920.1(MT-ND1):m.3502T>C	SNV Germline	ChrMT:3502	Likely pathogenic	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Multiple Submitters No Conflicts		rs_1603218987	2 SubmittersRCV000853665 RCV002252257
NC_012920.1(MT-ND1):m.4142G>A	SNV Germline	ChrMT:4142	Likely pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Single Submitter		rs_1603219317	1 SubmittersRCV000853740
NC_012920.1(MT-ND5):m.12923G>A	SNV Germline	ChrMT:12923	Likely pathogenic	Leigh syndrome Juvenile myopathy, encephalopathy, lactic acidosis AND stroke Leber optic atrophy	Criteria Provided Single Submitter			1 SubmittersRCV003150916 RCV003150917 RCV003150918
NC_012920.1(MT-CYB):m.15215G>A	SNV Germline	ChrMT:15215	Likely pathogenic	Juvenile myopathy, encephalopathy, lactic acidosis AND stroke	Criteria Provided Single Submitter			1 SubmittersRCV003484260

SNV
Germline

ChrMT:1624

Pathogenic/Likely pathogenic

Leigh syndrome
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
LEIGH SYNDROME, MITOCHONDRIAL

Criteria Provided
Multiple Submitters
No Conflicts

CA120537

rs_199476144

4 SubmittersRCV000010158 RCV000850667 RCV004554592

m.5521G>A

SNV
Germline

ChrMT:5521

Likely pathogenic

Inborn mitochondrial myopathy
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Mitochondrial disease

Reviewed By Expert Panel

CA254831

rs_199474673

7 SubmittersRCV000010166 RCV000850777 RCV002291209

m.5532G>A

SNV
Germline

ChrMT:5532

Pathogenic

Neurogastrointestinal syndrome, mitochondrial
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Single Submitter

CA120542

rs_199474674

2 SubmittersRCV000010167 RCV002247284

m.12207G>A

SNV
Germline

ChrMT:12207

Pathogenic

MERRF/MELAS overlap syndrome
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Single Submitter

CA120545

rs_118203889

3 SubmittersRCV000010173 RCV002247285

m.15967G>A

SNV
Germline

ChrMT:15967

Pathogenic

MERFF syndrome
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Single Submitter

CA120550

rs_199474701

2 SubmittersRCV000010185 RCV000851158

NC_012920.1(MT-CYB):m.616T>C

SNV
Germline

ChrMT:616

Likely pathogenic

Epilepsy, mitochondrial
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Interstitial nephritis
Mitochondrial disease

Reviewed By Expert Panel

CA120552

rs_387906420

5 SubmittersRCV000010189 RCV000850644 RCV001804724 RCV002247290

NC_012920.1(MT-TK):m.8344A>G

SNV
Germline

ChrMT:8344

Pathogenic

Leigh syndrome
MERRF syndrome
Parkinson disease, mitochondrial
Condition: not provided
Mitochondrial disease
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
MT-TK-related mitochondrial disorder
MT-TK-related disorder

Reviewed By Expert Panel

CA254836

rs_118192098

13 SubmittersRCV000010193 RCV000010192 RCV000010194 RCV000224965 RCV000495310 RCV000850950 RCV001729345 RCV003492290

m.8356T>C

SNV
Germline

ChrMT:8356

Likely pathogenic

MERRF/MELAS overlap syndrome
MERRF syndrome
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Mitochondrial disease

Reviewed By Expert Panel

CA120554

rs_118192099

5 SubmittersRCV000010196 RCV000010195 RCV000850957 RCV003162231

NC_012920.1(MT-TK):m.8363G>A

SNV
Germline

ChrMT:8363

Likely pathogenic

Cardiomyopathy and Deafness
MERRF syndrome
Leigh syndrome
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Mitochondrial disease

Reviewed By Expert Panel

CA120555

rs_118192100

5 SubmittersRCV000010197 RCV000192053 RCV000144004 RCV000850961 RCV003162232

NC_012920.1(MT-TL2):m.12315G>A

SNV
Germline

ChrMT:12315

Likely pathogenic

Mitochondrial encephalomyopathy
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Mitochondrial disease

Reviewed By Expert Panel

CA120558

rs_121434462

3 SubmittersRCV000010203 RCV000851084 RCV003153297

NC_012920.1(MT-TL1):m.3243A>G

SNV
Germline/somatic

ChrMT:3243

Pathogenic/Likely pathogenic

Age related macular degeneration 2
Mitochondrial complex IV deficiency, nuclear type 1
Muscle stiffness, painful
Cyclical vomiting syndrome
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
3-methylglutaconic aciduria type 1
MERRF/MELAS overlap syndrome
Diabetes-deafness syndrome maternally transmitted
Leigh syndrome
Condition: not provided
Mitochondrial disease
Sensorineural hearing loss disorder
Glucose intolerance
Short stature
Stroke disorder
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
MERRF syndrome
Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1
not specified
See cases
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Leigh Syndrome (mtDNA mutation)
Hypertrophic cardiomyopathy
Diabetes-deafness syndrome maternally transmitted
Auditory neuropathy spectrum disorder
Cerebral palsy
LEIGH SYNDROME, MITOCHONDRIAL

Criteria Provided
Multiple Submitters
No Conflicts

CA120560

rs_199474657

29 SubmittersRCV000010209 RCV000010211 RCV000010208 RCV000010210 RCV000010206 RCV000022901 RCV000022902 RCV000032997 RCV000143997 RCV000224855 RCV000495738 RCV000626561 RCV000763623 RCV002250458 RCV002285005 RCV002287327 RCV003325938 RCV003984803 RCV001794441 RCV004554593

NC_012920.1(MT-TL1):m.3271T>C

SNV
Germline

ChrMT:3271

Pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
not specified
MERRF syndrome
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Mitochondrial disease

Reviewed By Expert Panel

CA254839

rs_199474658

7 SubmittersRCV000010212 RCV000507161 RCV000763624 RCV003319163

NC_012920.1(MT-TL1):m.3256C>T

SNV
Germline

ChrMT:3256

Likely pathogenic

MERRF syndrome
Diabetes mellitus, noninsulin-dependent, maternally transmitted
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Mitochondrial disease

Reviewed By Expert Panel

CA120561

rs_199474659

4 SubmittersRCV000010213 RCV000010214 RCV000850697 RCV003153298

NC_012920.1(MT-TL1):m.3303C>T

SNV
Germline

ChrMT:3303

Likely pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Mitochondrial disease
MITOCHONDRIAL CARDIOMYOPATHY WITH OR WITHOUT SKELETAL MYOPATHY

Reviewed By Expert Panel

CA120562

rs_199474660

4 SubmittersRCV000850713 RCV003162234 RCV004554594

NC_012920.1(MT-TL1):m.3252A>G

SNV
Germline

ChrMT:3252

Likely pathogenic

Mitochondrial encephalomyopathy
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Single Submitter

CA120564

rs_199474661

3 SubmittersRCV000010217 RCV000850692

m.3251A>G

SNV
Germline

ChrMT:3251

Pathogenic

Progressive external ophthalmoplegia, proximal myopathy, and sudden death
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Multiple Submitters
No Conflicts

CA120565

rs_199474662

3 SubmittersRCV000010218 RCV000850691

NC_012920.1(MT-TL1):m.3260A>G

SNV
Germline

ChrMT:3260

Pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
MITOCHONDRIAL CARDIOMYOPATHY WITH OR WITHOUT SKELETAL MYOPATHY

Criteria Provided
Single Submitter

CA120566

rs_199474663

3 SubmittersRCV000850698 RCV004554596

NC_012920.1(MT-TL1):m.3274A>G

SNV
Germline

ChrMT:3274

Conflicting classifications of pathogenicity

Neuropsychiatric disorder and early-onset cataract
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
MERRF syndrome

Criteria Provided
Conflicting Classifications

CA120568

rs_199474666

3 SubmittersRCV000010221 RCV000850703 RCV002288480

m.3242G>A

SNV
Germline/somatic

ChrMT:3242

Pathogenic/Likely pathogenic

Myelodysplastic syndrome
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Multiple Submitters
No Conflicts

CA280144

rs_193303018

3 SubmittersRCV000010223 RCV000850687

NC_012920.1(MT-TI):m.4295A>G

SNV
Germline

ChrMT:4295

Conflicting classifications of pathogenicity

Primary familial hypertrophic cardiomyopathy
Mitochondrial non-syndromic sensorineural hearing loss
Condition: not provided
not specified
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Conflicting Classifications

CA254841

rs_121434467

6 SubmittersRCV000010226 RCV000022900 RCV000224071 RCV000223744 RCV000850718

NC_012920.1(MT-TH):m.12147G>A

SNV
Germline

ChrMT:12147

Likely pathogenic

MERRF/MELAS overlap syndrome
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Mitochondrial disease

Reviewed By Expert Panel

CA120576

rs_121434474

5 SubmittersRCV000010234 RCV000851013 RCV002247294

NC_012920.1(MT-TQ):m.4336T>C

SNV
Germline

ChrMT:4336

Conflicting classifications of pathogenicity

Sensorineural deafness and migraine
Condition: not provided
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
not specified

Criteria Provided
Conflicting Classifications

CA340926

rs_41456348

4 SubmittersRCV000010239 RCV000224964 RCV000850736 RCV001288305

NC_012920.1(MT-TE):m.14709T>C

SNV
Germline

ChrMT:14709

Likely pathogenic

Myopathy, mitochondrial, with diabetes mellitus
Diabetes-deafness syndrome maternally transmitted
Mitochondrial disease
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Inborn mitochondrial myopathy

Reviewed By Expert Panel

CA120580

rs_121434453

5 SubmittersRCV000010241 RCV000032996 RCV000495337 RCV000851098 RCV001089486

m.14674T>C

SNV
Germline

ChrMT:14674

Likely pathogenic

Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Condition: not provided
Mitochondrial disease
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Reviewed By Expert Panel

CA120581

rs_387906421

6 SubmittersRCV000010243 RCV000224954 RCV000495655 RCV000851087

NC_012920.1(MT-ND6):m.14453G>A

SNV
Germline

ChrMT:14453

Likely pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Leigh syndrome
Mitochondrial disease

Reviewed By Expert Panel

CA254853

rs_199476107

4 SubmittersRCV000010331 RCV000855109 RCV002260589

m.12770A>G

SNV
Germline

ChrMT:12770

Pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

No Assertion Criteria Provided

CA254855

rs_267606894

2 SubmittersRCV000010339

m.13045A>C

SNV
Germline

ChrMT:13045

Pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Leber optic atrophy
Leigh syndrome due to mitochondrial complex I deficiency

No Assertion Criteria Provided

CA120629

rs_267606895

1 SubmittersRCV000010340 RCV000010341 RCV000010342

m.13084A>T

SNV
Germline

ChrMT:13084

Pathogenic

Leigh syndrome due to mitochondrial complex I deficiency
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

No Assertion Criteria Provided

CA120631

rs_267606896

2 SubmittersRCV000010343 RCV000010344

NC_012920.1(MT-ND5):m.13513G>A

SNV
Germline

ChrMT:13513

Pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Leigh syndrome due to mitochondrial complex I deficiency
Leigh syndrome
Condition: not provided
Mitochondrial disease

Reviewed By Expert Panel

CA120632

rs_267606897

10 SubmittersRCV000010345 RCV000010346 RCV000144016 RCV000224472 RCV000494941

NC_012920.1(MT-ND5):m.13042G>A

SNV
Germline

ChrMT:13042

Likely pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
MERRF syndrome
Leigh syndrome due to mitochondrial complex I deficiency
Leber optic atrophy
Mitochondrial disease

Reviewed By Expert Panel

CA120633

rs_267606898

5 SubmittersRCV000010347 RCV000010348 RCV000010349 RCV000854885 RCV002260592

m.3697G>A

SNV
Germline

ChrMT:3697

Likely pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Leber optic atrophy and dystonia
Leber optic atrophy
Mitochondrial disease
7 conditions

Reviewed By Expert Panel

CA120647

rs_199476122

6 SubmittersRCV000010385 RCV000010386 RCV000056168 RCV002221474 RCV003298030

NC_012920.1(MT-ND1):m.3946G>A

SNV
Germline

ChrMT:3946

Pathogenic/Likely pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Leigh syndrome
Leber optic atrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA254862

rs_199476123

6 SubmittersRCV000010387 RCV000853718 RCV001542704

m.3949T>C

SNV
Germline

ChrMT:3949

Pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

No Assertion Criteria Provided

CA254863

rs_199476124

2 SubmittersRCV000010388

m.12201T>C

SNV
Germline

ChrMT:12201

Likely pathogenic

Mitochondrial non-syndromic sensorineural hearing loss
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Mitochondrial disease

Reviewed By Expert Panel

CA259740

rs_387906733

3 SubmittersRCV000022899 RCV000851039 RCV003319172

m.586G>A

SNV
Germline

ChrMT:586

Pathogenic

Mitochondrial encephalopathy
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Single Submitter

CA128831

rs_387906734

2 SubmittersRCV000022903 RCV000850632

NC_012920.1(MT-ND1):m.3481G>A

SNV
Germline

ChrMT:3481

Pathogenic

Leigh syndrome
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Single Submitter

CA345910

rs_587776433

2 SubmittersRCV000143999 RCV000853660

NC_012920.1(MT-ND5):m.13514A>G

SNV
Germline

ChrMT:13514

Likely pathogenic

Leigh syndrome
Mitochondrial disease
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Reviewed By Expert Panel

CA345918

rs_587776440

3 SubmittersRCV000144017 RCV002260618 RCV003333959

NM_005006.7(NDUFS1):c.758T>G (p.Val253Gly)

SNV
Germline

Chr2:206145006

Likely pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Single Submitter

CA274773

rs_786205666

1 SubmittersRCV000170569

NC_012920.1:m.8969G>A

SNV
Germline

ChrMT:8969

Likely pathogenic

Myopathy, lactic acidosis, and sideroblastic anemia 3
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Leber optic atrophy
Mitochondrial disease

Reviewed By Expert Panel

CA199769

rs_794726857

4 SubmittersRCV000171545 RCV000854381 RCV002247579 RCV002260628

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

SNV
Germline

Chr15:89320857

Conflicting classifications of pathogenicity

Condition: not provided
Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy
Progressive sclerosing poliodystrophy
Spinocerebellar atrophy
Mitochondrial DNA depletion syndrome 4b
Hereditary spastic paraplegia
not specified
POLG-Related Spectrum Disorders
Inborn genetic diseases
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1

Criteria Provided
Conflicting Classifications

CA316719

rs_201477273

18 SubmittersRCV000188591 RCV000490261 RCV000633558 RCV000984890 RCV001808469 RCV001847830 RCV002247604 RCV002282023 RCV002317145 RCV003232987 RCV003992217

NC_012920.1(MT-TL1):m.3291T>C

SNV
Germline

ChrMT:3291

Likely pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Mitochondrial disease

Reviewed By Expert Panel

rs_869312463

4 SubmittersRCV000850711 RCV002291215

NC_012920.1(MT-TQ):m.4388A>G

SNV
Germline

ChrMT:4388

Conflicting classifications of pathogenicity

Condition: not provided
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Conflicting Classifications

CA10581310

rs_375986475

2 SubmittersRCV000224569 RCV000850756

NC_012920.1(MT-TH):m.12175T>C

SNV
Germline

ChrMT:12175

Conflicting classifications of pathogenicity

Condition: not provided
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Conflicting Classifications

CA16603222

rs_1057520099

2 SubmittersRCV000426541 RCV000851027

NC_012920.1(MT-TH):m.12153C>T

SNV
Germline

ChrMT:12153

Conflicting classifications of pathogenicity

Condition: not provided
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Conflicting Classifications

CA16603227

rs_376606918

2 SubmittersRCV000426740 RCV000851017

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

SNV
Germline

Chr15:89321750

Pathogenic/Likely pathogenic

Condition: not provided
Progressive sclerosing poliodystrophy
POLG-Related Spectrum Disorders
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Multiple Submitters
No Conflicts

CA7724420

rs_778429780

6 SubmittersRCV000497335 RCV000758455 RCV003330728 RCV003232989

NC_012920.1(MT-TS2):m.12236G>A

SNV
Germline

ChrMT:12236

Conflicting classifications of pathogenicity

not specified
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Condition: not provided

Criteria Provided
Conflicting Classifications

CA337099418

rs_28359170

3 SubmittersRCV000506174 RCV000851053 RCV000992385

NC_012920.1(MT-CYB):m.1619C>T

SNV
Germline

ChrMT:1619

Conflicting classifications of pathogenicity

Condition: not provided
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Conflicting Classifications

rs_1569483811

2 SubmittersRCV000756364 RCV000850665

NC_012920.1(MT-CYB):m.10406G>A

SNV
Germline

ChrMT:10406

Pathogenic/Likely pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Mitochondrial disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603222826

2 SubmittersRCV000850992 RCV002249544

NC_012920.1(MT-CYB):m.10408T>C

SNV
Germline

ChrMT:10408

Likely pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Single Submitter

rs_1603222827

1 SubmittersRCV000850993

NC_012920.1(MT-CYB):m.10460T>C

SNV
Germline

ChrMT:10460

Likely pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Single Submitter

rs_1603222848

1 SubmittersRCV000851006

NC_012920.1(MT-CYB):m.12148T>C

SNV
Germline

ChrMT:12148

Likely pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Single Submitter

rs_1603223571

1 SubmittersRCV000851014

NC_012920.1(MT-CYB):m.12258C>T

SNV
Germline

ChrMT:12258

Pathogenic/Likely pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Multiple Submitters
No Conflicts

rs_118203888

2 SubmittersRCV000851064

NC_012920.1(MT-CYB):m.12264C>T

SNV
Germline

ChrMT:12264

Pathogenic/Likely pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603223642

2 SubmittersRCV000851065

NC_012920.1(MT-CYB):m.12276G>A

SNV
Germline

ChrMT:12276

Likely pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Mitochondrial disease

Reviewed By Expert Panel

rs_1603223645

2 SubmittersRCV000851068 RCV003153875

NC_012920.1(MT-CYB):m.12278T>C

SNV
Germline

ChrMT:12278

Conflicting classifications of pathogenicity

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Mitochondrial disease
Diabetes-deafness syndrome maternally transmitted

Criteria Provided
Conflicting Classifications

rs_1603223646

3 SubmittersRCV000851069 RCV003225132 RCV003986054

NC_012920.1(MT-CYB):m.12335T>C

SNV
Germline

ChrMT:12335

Likely pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Single Submitter

rs_1603223668

1 SubmittersRCV000851086

NC_012920.1(MT-CYB):m.14739G>A

SNV
Germline

ChrMT:14739

Pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Single Submitter

rs_1603224850

1 SubmittersRCV000851103

NC_012920.1(MT-CYB):m.15915G>A

SNV
Germline

ChrMT:15915

Pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Single Submitter

rs_1603225588

1 SubmittersRCV000851125

NC_012920.1(MT-CYB):m.16002T>C

SNV
Germline

ChrMT:16002

Pathogenic/Likely pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
MERRF syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603225633

2 SubmittersRCV000851169 RCV002249545

NC_012920.1(MT-CYB):m.1644G>A

SNV
Germline

ChrMT:1644

Likely pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Mitochondrial disease

Reviewed By Expert Panel

rs_587776441

4 SubmittersRCV000850677 RCV001796793

NC_012920.1(MT-CYB):m.1659T>C

SNV
Germline

ChrMT:1659

Pathogenic/Likely pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603218609

2 SubmittersRCV000850683

NC_012920.1(MT-TL1):m.3243A>T

SNV
Germline

ChrMT:3243

Likely pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Mitochondrial disease

Reviewed By Expert Panel

rs_199474657

4 SubmittersRCV000850688 RCV003153872

NC_012920.1(MT-CYB):m.3255G>A

SNV
Germline

ChrMT:3255

Pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603218856

2 SubmittersRCV000850696

NC_012920.1(MT-CYB):m.3288A>G

SNV
Germline

ChrMT:3288

Likely pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Single Submitter

rs_1603218872

1 SubmittersRCV000850709

NC_012920.1(MT-TL1):m.3302A>G

SNV
Germline

ChrMT:3302

Likely pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Mitochondrial disease
MITOCHONDRIAL SKELETAL MYOPATHY
MITOCHONDRIAL CARDIOMYOPATHY WITH OR WITHOUT SKELETAL MYOPATHY

Reviewed By Expert Panel

rs_1603218878

4 SubmittersRCV000850712 RCV003153873 RCV004555600 RCV004555599

NC_012920.1(MT-CYB):m.4296G>A

SNV
Germline

ChrMT:4296

Pathogenic/Likely pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
MERRF syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603219393

2 SubmittersRCV000850719 RCV002249542

NC_012920.1(MT-CYB):m.4372C>T

SNV
Germline

ChrMT:4372

Likely pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Single Submitter

rs_1603219429

1 SubmittersRCV000850746

NC_012920.1(MT-CYB):m.4437C>T

SNV
Germline

ChrMT:4437

Likely pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Single Submitter

rs_1603219459

1 SubmittersRCV000850765

NC_012920.1(MT-CYB):m.5540G>A

SNV
Germline

ChrMT:5540

Pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603220014

2 SubmittersRCV000850786

NC_012920.1(MT-CYB):m.5543T>C

SNV
Germline

ChrMT:5543

Pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603220016

2 SubmittersRCV000850788

NC_012920.1(MT-CYB):m.578T>C

SNV
Germline

ChrMT:578

Likely pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Single Submitter

rs_1603218446

1 SubmittersRCV000850630

NC_012920.1(MT-CYB):m.618T>C

SNV
Germline

ChrMT:618

Pathogenic/Likely pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Mitochondrial disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603218460

2 SubmittersRCV000850645 RCV002249541

NC_012920.1(MT-TD):m.7566G>A

SNV
Germline

ChrMT:7566

Pathogenic/Likely pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Mitochondrial disease

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603221016

2 SubmittersRCV000850923 RCV002249543

NC_012920.1(MT-CYB):m.8299G>A

SNV
Germline

ChrMT:8299

Likely pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Single Submitter

rs_1603221391

1 SubmittersRCV000850937

NC_012920.1(MT-TK):m.8319A>G

SNV
Germline

ChrMT:8319

Conflicting classifications of pathogenicity

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Kearns-Sayre syndrome

Criteria Provided
Conflicting Classifications

rs_1603221401

2 SubmittersRCV000850944 RCV002290478

NC_012920.1(MT-CYB):m.8362T>G

SNV
Germline

ChrMT:8362

Pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603221423

2 SubmittersRCV000850960

NC_012920.1(MT-CYB):m.9997T>A

SNV
Germline

ChrMT:9997

Likely pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Single Submitter

rs_121434475

1 SubmittersRCV000850967

NC_012920.1(MT-ND5):m.13046T>C

SNV
Germline

ChrMT:13046

Likely pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Single Submitter

rs_1603224015

1 SubmittersRCV000854886

NC_012920.1:m.13094T>C

SNV
Germline

ChrMT:13094

Pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Mitochondrial disease
Leber optic atrophy

Reviewed By Expert Panel

rs_1603224029

4 SubmittersRCV000854891 RCV002291219 RCV002249552

NC_012920.1(MT-ND6):m.14465G>A

SNV
Germline

ChrMT:14465

Likely pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Single Submitter

rs_1603224738

1 SubmittersRCV000855111

NC_012920.1(MT-ND1):m.3380G>A

SNV
Germline

ChrMT:3380

Pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Single Submitter

rs_1603218926

1 SubmittersRCV000853646

NC_012920.1(MT-ND1):m.3502T>C

SNV
Germline

ChrMT:3502

Likely pathogenic

Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Multiple Submitters
No Conflicts

rs_1603218987

2 SubmittersRCV000853665 RCV002252257

NC_012920.1(MT-ND1):m.4142G>A

SNV
Germline

ChrMT:4142

Likely pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Single Submitter

rs_1603219317

1 SubmittersRCV000853740

NC_012920.1(MT-ND5):m.12923G>A

SNV
Germline

ChrMT:12923

Likely pathogenic

Leigh syndrome
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Leber optic atrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003150916 RCV003150917 RCV003150918

NC_012920.1(MT-CYB):m.15215G>A

SNV
Germline

ChrMT:15215

Likely pathogenic

Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Criteria Provided
Single Submitter

1 SubmittersRCV003484260