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NC_012920.1(MT-ATP6):m.8993T>G AND Rod-cone dystrophy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 8, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001376274.1

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:
Rod-cone dystrophy
Identifiers:
MedGen: C4551714; Human Phenotype Ontology: HP:0000510

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001573357Ocular Genomics Institute, Massachusetts Eye and Ear
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Apr 8, 2021)
germlineresearch

PubMed (13)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Prenatal diagnosis of mitochondrial DNA8993 T----G disease.

Harding AE, Holt IJ, Sweeney MG, Brockington M, Davis MB.

Am J Hum Genet. 1992 Mar;50(3):629-33.

PubMed [citation]
PMID:
1539598
PMCID:
PMC1684296

The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.

Riley LG, Cowley MJ, Gayevskiy V, Minoche AE, Puttick C, Thorburn DR, Rius R, Compton AG, Menezes MJ, Bhattacharya K, Coman D, Ellaway C, Alexander IE, Adams L, Kava M, Robinson J, Sue CM, Balasubramaniam S, Christodoulou J.

Genet Med. 2020 Jul;22(7):1254-1261. doi: 10.1038/s41436-020-0793-6. Epub 2020 Apr 21.

PubMed [citation]
PMID:
32313153
See all PubMed Citations (13)

Details of each submission

From Ocular Genomics Institute, Massachusetts Eye and Ear, SCV001573357.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (13)

Description

The MT-ATP6 c.467T>G variant was identified in an individual with retinitis pigmentosa with a presumed mitochondrial inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PS3, PS4, PP1. Based on this evidence we have classified this variant as Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024