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NC_012920.1(MT-TE):m.14674T>G AND Mitochondrial myopathy with reversible cytochrome C oxidase deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 2010
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:
RCV000022898.4

Allele description [Variation Report for NC_012920.1(MT-TE):m.14674T>G]

NC_012920.1(MT-TE):m.14674T>G

Gene:
MT-TE:mitochondrially encoded tRNA glutamic acid [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
NC_012920.1(MT-TE):m.14674T>G
HGVS:
NC_012920.1:m.14674T>G
Nucleotide change:
14674T-G
Links:
OMIM: 590025.0003; dbSNP: rs387906421
NCBI 1000 Genomes Browser:
rs387906421

Condition(s)

Name:
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Synonyms:
Mitochondrial myopathy, infantile, transient; MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT, DUE TO RESPIRATORY CHAIN DEFICIENCY; COX DEFICIENCY MYOPATHY, INFANTILE, TRANSIENT; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010780; MedGen: C3151898; Orphanet: 254864; OMIM: 500009

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000044189OMIM
no assertion criteria provided
Pathogenic
(Dec 1, 2010) 		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

Reversible infantile respiratory chain deficiency: a clinical and molecular study.

Mimaki M, Hatakeyama H, Komaki H, Yokoyama M, Arai H, Kirino Y, Suzuki T, Nishino I, Nonaka I, Goto Y.

Ann Neurol. 2010 Dec;68(6):845-54. doi: 10.1002/ana.22111.

PubMed [citation]
PMID:
21194154

Details of each submission

From OMIM, SCV000044189.2

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

Description

In 2 Japanese patients with transient infantile mitochondrial myopathy (500009), Mimaki et al. (2010) identified a homoplasmic 14674T-G transversion in the MTTE gene. Six additional Japanese patients with the same disorder had the 14674T-C mutation (590025.0002) affecting the same nucleotide.

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

Last Updated: Aug 25, 2024