U.S. flag

An official website of the United States government

NC_012920.1:m.5631G>A AND Inborn mitochondrial myopathy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 15, 2014
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000169780.1

Allele description [Variation Report for NC_012920.1:m.5631G>A]

NC_012920.1:m.5631G>A

Gene:
MT-TA:mitochondrially encoded tRNA alanine [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
NC_012920.1:m.5631G>A
HGVS:
  • NC_012920.1:m.5631G>A
  • NC_012920.1:g.5631G>A
Links:
dbSNP: rs786200950
NCBI 1000 Genomes Browser:
rs786200950

Condition(s)

Name:
Inborn mitochondrial myopathy
Synonyms:
Mitochondrial myopathy; Mitochondrial Myopathies
Identifiers:
MONDO: MONDO:0009637; MedGen: C0162670; Human Phenotype Ontology: HP:0003737

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000196082Wellcome Centre for Mitochondrial Research, Newcastle University
no assertion criteria provided
Pathogenic
(Dec 15, 2014) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy.

Lehmann D, Schubert K, Joshi PR, Hardy SA, Tuppen HA, Baty K, Blakely EL, Bamberg C, Zierz S, Deschauer M, Taylor RW.

Eur J Hum Genet. 2015 Dec;23(12):1735-8. doi: 10.1038/ejhg.2015.73. Epub 2015 Apr 15.

PubMed [citation]
PMID:
25873012
PMCID:
PMC4519577

Details of each submission

From Wellcome Centre for Mitochondrial Research, Newcastle University, SCV000196082.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 6, 2024