U.S. flag

An official website of the United States government

NC_012920.1(MT-TA):m.5591G>A AND Inborn mitochondrial myopathy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 14, 2006
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:
RCV000010251.2

Allele description [Variation Report for NC_012920.1(MT-TA):m.5591G>A]

NC_012920.1(MT-TA):m.5591G>A

Gene:
MT-TA:mitochondrially encoded tRNA alanine [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
NC_012920.1(MT-TA):m.5591G>A
HGVS:
  • NC_012920.1:m.5591G>A
  • NC_012920.1:g.5591G>A
Nucleotide change:
5591G-A
Links:
OMIM: 590000.0002; dbSNP: rs121434458
NCBI 1000 Genomes Browser:
rs121434458

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
SCV000030475OMIM
no assertion criteria provided
Pathogenic
(Feb 14, 2006) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Pure myopathy associated with a novel mitochondrial tRNA gene mutation.

Swalwell H, Deschauer M, Hartl H, Strauss M, Turnbull DM, Zierz S, Taylor RW.

Neurology. 2006 Feb 14;66(3):447-9.

PubMed [citation]
PMID:
16476954

Details of each submission

From OMIM, SCV000030475.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 47-year-old man with a mitochondrial myopathy, Swalwell et al. (2006) identified a heteroplasmic 5591G-A transition in the MTTA gene. The phenotype was characterized by proximal muscle weakness, myalgia, and increased serum creatine kinase. Muscle biopsy showed ragged red fibers and cytochrome c oxidase deficiency, and PCR analysis of muscle tissue detected 98% mutant mtDNA.

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

Last Updated: Jul 23, 2024