Total 27 pathogenic variants reported for Leber optic atrophy 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NC_012920.1(MT-ATP6):m.8993T>C SNV
Germline		 ChrMT:8993 Pathogenic Ataxia and polyneuropathy, adult-onset
Leigh syndrome
Mitochondrial disease
NARP syndrome
Condition: not provided
Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1
Leber optic atrophy		 Reviewed By Expert Panel
 CA120596 rs_199476133

11 SubmittersRCV000010276RCV000010275RCV000495030RCV000854390RCV001268873RCV000754647RCV002247300
NC_012920.1(MT-ATP6):m.9176T>C SNV
Germline		 ChrMT:9176 Pathogenic Striatonigral degeneration, infantile, mitochondrial
Leigh syndrome
Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1
Condition: not provided
Leber optic atrophy
Leigh syndrome, mitochondrial
Maternally-inherited spastic paraplegia
Mitochondrial disease
NARP syndrome		 Reviewed By Expert Panel
 CA120597 rs_199476135

14 SubmittersRCV000010278RCV000010279RCV000754652RCV001027501RCV001542707RCV004554599RCV002251425RCV002260585RCV004766998
NC_012920.1(MT-ATP6):m.9185T>C SNV
Germline		 ChrMT:9185 Pathogenic Leigh syndrome
Charcot-Marie-Tooth disease
Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1
Condition: not provided
Mitochondrial disease
Leber optic atrophy
Mitochondrial DNA-Associated Leigh Syndrome and NARP
NARP syndrome
Charcot-Marie-Tooth disease, type IA		 Reviewed By Expert Panel
 CA340928 rs_199476138

16 SubmittersRCV000010282RCV000240612RCV000754648RCV001267926RCV000495689RCV001542709RCV002267606RCV004760325RCV003224857
NC_012920.1(MT-ATP6):m.9176T>G SNV
Germline		 ChrMT:9176 Likely pathogenic Leigh syndrome
Mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1
Condition: not provided
Leber optic atrophy
Mitochondrial disease		 Reviewed By Expert Panel
 CA340929 rs_199476135

6 SubmittersRCV000010285RCV000754649RCV001543462RCV001542708RCV002221473
NC_012920.1(MT-CYB):m.15150G>A SNV
Germline		 ChrMT:15150 Likely pathogenic Exercise intolerance
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Leber optic atrophy
Mitochondrial disease		 Reviewed By Expert Panel
 CA120619 rs_207460000

4 SubmittersRCV000010319RCV000855232RCV002247305RCV004791207
NC_012920.1(MT-ND6):m.14484T>C SNV
Germline		 ChrMT:14484 Pathogenic Leber optic atrophy
Leigh syndrome
Condition: not provided
Mitochondrial disease
Retinal dystrophy
Optic atrophy		 Reviewed By Expert Panel
 CA340932 rs_199476104

14 SubmittersRCV000010325RCV000144018RCV000223709RCV003162238RCV004814873RCV004814874
NC_012920.1(MT-ND6):m.14495A>G SNV
Germline		 ChrMT:14495 Likely pathogenic Leber optic atrophy
Mitochondrial disease		 Reviewed By Expert Panel
 CA340933 rs_199476106

3 SubmittersRCV000010330RCV002260588
NC_012920.1(MT-ND6):m.14482C>A SNV
Germline		 ChrMT:14482 Likely pathogenic Leber optic atrophy
Mitochondrial disease		 Reviewed By Expert Panel
 CA340934 rs_199476108

3 SubmittersRCV000010332RCV002260590
NC_012920.1(MT-ND6):m.14487T>C SNV
Germline		 ChrMT:14487 Pathogenic Striatal necrosis, bilateral, with dystonia
Leigh syndrome
Leigh syndrome due to mitochondrial complex I deficiency
Mitochondrial disease
MELAS syndrome
Leber optic atrophy		 Reviewed By Expert Panel
 CA120627 rs_199476109

6 SubmittersRCV000010334RCV000144020RCV000010333RCV003162239RCV005252673RCV002247307
NC_012920.1(MT-ND5):m.12706T>C (p.Phe124Leu) SNV
Germline		 ChrMT:12706 Likely pathogenic Leigh syndrome due to mitochondrial complex I deficiency
Leigh syndrome
Leber optic atrophy
Mitochondrial disease		 Reviewed By Expert Panel
 CA120628 rs_267606893

5 SubmittersRCV000010338RCV000144015RCV002247308RCV002260591
NC_012920.1(MT-ND5):m.13042G>A SNV
Germline		 ChrMT:13042 Likely pathogenic MELAS syndrome
MERRF syndrome
Leigh syndrome due to mitochondrial complex I deficiency
Leber optic atrophy
Mitochondrial disease		 Reviewed By Expert Panel
 CA120633 rs_267606898

5 SubmittersRCV000010347RCV000010348RCV000010349RCV000854885RCV002260592
NC_012920.1(MT-ND4L):m.10663T>C SNV
Germline		 ChrMT:10663 Likely pathogenic Leber optic atrophy
Mitochondrial disease		 Reviewed By Expert Panel
 CA340938 rs_1556423844

5 SubmittersRCV000010353RCV003153302
NC_012920.1(MT-ND4):m.11778G>A SNV
Germline		 ChrMT:11778 Pathogenic Leber optic atrophy
Condition: not provided
Mitochondrial disease
not specified
Leber optic atrophy and dystonia
Leber optic atrophy, susceptibility to
Optic atrophy
Retinal dystrophy		 Reviewed By Expert Panel
 CA340939 rs_199476112

22 SubmittersRCV000010354RCV000224219RCV002260593RCV002285007RCV005252674RCV002288481RCV004814876RCV004814875
NC_012920.1(MT-ND4):m.11777C>A SNV
Germline		 ChrMT:11777 Likely pathogenic Mitochondrial complex I deficiency
Leber optic atrophy
Leigh syndrome
Mitochondrial disease
Leber optic atrophy and dystonia		 Reviewed By Expert Panel
 CA120636 rs_28384199

5 SubmittersRCV000010357RCV000854746RCV000144013RCV002260594RCV005252675
NC_012920.1(MT-ND3):m.10197G>A SNV
Germline		 ChrMT:10197 Pathogenic Leber optic atrophy and dystonia
Mitochondrial complex I deficiency, mitochondrial type 1
Mitochondrial DNA-Associated Leigh Syndrome and NARP
Leigh syndrome
not specified
Mitochondrial disease
Condition: not provided
See cases
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy		 Reviewed By Expert Panel
 CA120640 rs_267606891

11 SubmittersRCV000010363RCV000010362RCV002247309RCV000144011RCV002285008RCV002291213RCV000507278RCV004017234RCV004767000
NC_012920.1(MT-ND1):m.3460G>A SNV
Germline		 ChrMT:3460 Pathogenic Leber optic atrophy
Leigh syndrome
Condition: not provided
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3
Optic atrophy
Mitochondrial disease
MELAS syndrome		 Reviewed By Expert Panel
 CA120646 rs_199476118

11 SubmittersRCV000010370RCV000143998RCV000757484RCV000735416RCV004814877RCV003319165RCV005252676
NC_012920.1(MT-ND1):m.3697G>A SNV
Germline		 ChrMT:3697 Likely pathogenic Leber optic atrophy and dystonia
Leber optic atrophy
MELAS syndrome
Mitochondrial disease
7 conditions		 Reviewed By Expert Panel
 CA120647 rs_199476122

6 SubmittersRCV000010386RCV000056168RCV000010385RCV002221474RCV003298030
NC_012920.1(MT-ND6):m.14482C>G SNV
Germline		 ChrMT:14482 Likely pathogenic Leber optic atrophy
Mitochondrial disease		 Reviewed By Expert Panel
 CA344824 rs_199476108

2 SubmittersRCV000055701RCV003162433
NC_012920.1(MT-ND6):m.14568C>T SNV
Germline		 ChrMT:14568 Likely pathogenic Leber optic atrophy
Mitochondrial disease		 Reviewed By Expert Panel
 CA344825 rs_397515506

3 SubmittersRCV000055703RCV002260604
NC_012920.1(MT-ND1):m.3635G>A SNV
Germline		 ChrMT:3635 Likely pathogenic Leber optic atrophy
Mitochondrial disease		 Reviewed By Expert Panel
 CA344827 rs_397515507

4 SubmittersRCV000055707RCV002291214
NC_012920.1(MT-ATP6):m.8969G>A SNV
Germline		 ChrMT:8969 Likely pathogenic Myopathy, lactic acidosis, and sideroblastic anemia 3
MELAS syndrome
Mitochondrial disease
Leber optic atrophy
Condition: not provided		 Reviewed By Expert Panel
 CA199769 rs_794726857

5 SubmittersRCV000171545RCV000854381RCV002260628RCV002247579RCV005434668
NC_012920.1(MT-CO3):m.9237G>A SNV
Germline		 ChrMT:9237 Pathogenic Mitochondrial encephalopathy
Epilepsy
Developmental delay
Leber optic atrophy		 Criteria Provided
Single Submitter
 CA16040652 rs_1057516064

2 SubmittersRCV000408945RCV002248640
NM_001377299.1(NDUFS2):c.268G>A (p.Ala90Thr) SNV
Unknown		 Chr1:161206472 Likely pathogenic Leber optic atrophy Criteria Provided
Single Submitter
 CA343377955 rs_1553249704

1 SubmittersRCV000625868
NC_012920.1(MT-ATP6):m.9035T>C SNV
Germline		 ChrMT:9035 Likely pathogenic Progressive cerebellar ataxia
Leigh syndrome
See cases
MT-ATP6-related primary mitochondrial disease
Leber optic atrophy
Mitochondrial disease
NARP syndrome		 Reviewed By Expert Panel
 CA414801955 rs_1603222000

10 SubmittersRCV000851177RCV000854406RCV001196557RCV002466594RCV002249546RCV002260672RCV004768714
NC_012920.1(MT-ND5):m.13094T>C SNV
Germline		 ChrMT:13094 Pathogenic MELAS syndrome
Leber optic atrophy
Mitochondrial disease		 Reviewed By Expert Panel
 CA414816540 rs_1603224029

4 SubmittersRCV000854891RCV002249552RCV002291219
NC_012920.1(MT-ND5):m.12923G>A SNV
Germline		 ChrMT:12923 Likely pathogenic Leigh syndrome
MELAS syndrome
Leber optic atrophy		 Criteria Provided
Single Submitter
 CA414815506 rs_1603223971

1 SubmittersRCV003150916RCV003150917RCV003150918