NC_012920.1(MT-ATP6):m.8993T>G AND Leber optic atrophy

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: May 4, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001542706.3

Allele description [Variation Report for NC_012920.1(MT-ATP6):m.8993T>G]

NC_012920.1(MT-ATP6):m.8993T>G

Genes:

MT-ATP8:mitochondrially encoded ATP synthase 8 [Gene - OMIM - HGNC]
MT-ND1:mitochondrially encoded NADH dehydrogenase 1 [Gene - OMIM - HGNC]
MT-ND2:mitochondrially encoded NADH dehydrogenase 2 [Gene - OMIM - HGNC]
MT-CO1:mitochondrially encoded cytochrome c oxidase I [Gene - OMIM - HGNC]
MT-CO2:mitochondrially encoded cytochrome c oxidase II [Gene - OMIM - HGNC]
MT-TD:mitochondrially encoded tRNA aspartic acid [Gene - OMIM - HGNC]
MT-TI:mitochondrially encoded tRNA isoleucine [Gene - OMIM - HGNC]
MT-TK:mitochondrially encoded tRNA lysine [Gene - OMIM - HGNC]
MT-TM:mitochondrially encoded tRNA methionine [Gene - OMIM - HGNC]
MT-TW:mitochondrially encoded tRNA tryptophan [Gene - OMIM - HGNC]
MT-ND3:mitochondrially encoded NADH dehydrogenase 3 [Gene - OMIM - HGNC]
MT-ND4:mitochondrially encoded NADH dehydrogenase 4 [Gene - OMIM - HGNC]
MT-ND4L:mitochondrially encoded NADH dehydrogenase 4L [Gene - OMIM - HGNC]
MT-ND5:mitochondrially encoded NADH dehydrogenase 5 [Gene - OMIM - HGNC]
MT-CO3:mitochondrially encoded cytochrome c oxidase III [Gene - OMIM - HGNC]
MT-TA:mitochondrially encoded tRNA alanine [Gene - OMIM - HGNC]
MT-TR:mitochondrially encoded tRNA arginine [Gene - OMIM - HGNC]
MT-TN:mitochondrially encoded tRNA asparagine [Gene - OMIM - HGNC]
MT-TC:mitochondrially encoded tRNA cysteine [Gene - OMIM - HGNC]
MT-TQ:mitochondrially encoded tRNA glutamine [Gene - OMIM - HGNC]
MT-TG:mitochondrially encoded tRNA glycine [Gene - OMIM - HGNC]
MT-TH:mitochondrially encoded tRNA histidine [Gene - OMIM - HGNC]
MT-TS1:mitochondrially encoded tRNA serine 1 (UCN) [Gene - OMIM - HGNC]
MT-TS2:mitochondrially encoded tRNA serine 2 (AGU/C) [Gene - OMIM - HGNC]
MT-TY:mitochondrially encoded tRNA tyrosine [Gene - OMIM - HGNC]
MT-ATP6:mitochondrially encoded ATP synthase 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Genomic location:

Preferred name:

NC_012920.1(MT-ATP6):m.8993T>G

Other names:

MTATP6, 8993T-G, LEU156ARG; L156R

HGVS:

NC_012920.1:m.8993T>G
NC_012920.1:g.8993T>G
m.8993T>G
p.Leu156Arg

Protein change:

LEU156ARG

Links:

Genetic Testing Registry (GTR): GTR000556568; Genetic Testing Registry (GTR): GTR000556575; OMIM: 516060.0001; dbSNP: rs199476133

NCBI 1000 Genomes Browser:

rs199476133

Condition(s)

Name:: Leber optic atrophy (LHON)
Synonyms:: Optic Atrophy, Hereditary, Leber; Leber hereditary optic neuropathy; Leber's disease; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010788; MedGen: C0917796; Orphanet: 104; OMIM: 535000; Human Phenotype Ontology: HP:0001112

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001760537	Genomics England Pilot Project, Genomics England	criteria provided, single submitter (ACGS Guidelines, 2016)	Likely pathogenic	germline	clinical testing	Citation Link,
SCV002517649	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2019)	Pathogenic (May 4, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001760537

Genomics England Pilot Project, Genomics England

criteria provided, single submitter

(ACGS Guidelines, 2016)

Likely pathogenic

germline

clinical testing

Citation Link,

SCV002517649

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2019)

Pathogenic
(May 4, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Genomics England Pilot Project, Genomics England, SCV001760537.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Mendelics, SCV002517649.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 19, 2024

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