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NC_012920.1(MT-ATP6):m.8993T>G AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
May 24, 2018
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:
RCV000224643.9

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)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000280809Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jul 15, 2014) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV000885721ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Pathogenic
(May 24, 2018) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot providednot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics, SCV000280809.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot provided0.001121not providednot provided

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000885721.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The m.8993T>G affects the MT-ATP6 gene, and this well-studied variant accounts of the majority of patients diagnosed with Mitochondrial DNA (mtDNA)-associated Leigh syndrome and NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa; see GeneReviews: NBK1173).

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

Last Updated: May 19, 2024