m.12201T>C

m.12201T>C

Variant type:
single nucleotide variant
Genomic location:
  • ChrMT:12201 (on Assembly GRCh37)
  • ChrMT:12201 (on Assembly GRCh38)
Other names:
  • 12201T-C
HGVS:
  • NC_012920.1:m.12201T>C
Links:
NCBI 1000 Genomes Browser:
rs387906733

Clinical significance

m.12201T>C

Clinical significance:
Pathogenic/Likely pathogenic
Review status:
(1/4)1 star out of maximum of 4 stars
classified by single submitter
Number of submission(s):
1
Condition(s)
See supporting ClinVar records

Recent Activity

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter
(Last submitted)
Submission accession
Pathogenic
(Oct 27, 2011)
classified by single submitter
(literature only)
literature onlygermlinePubMed (1)
OMIM
(Oct 27, 2011)
SCV000044190

Summary

FamiliesIndividualsSegregationAllele originEthnicityGeographic origin
not providednot providednot providedgermlinenot providednot provided

OMIM

Data published from literature

FamiliesIndividualsSegregationsAllele originCitations
not providednot providednot providedgermline

Description

In affected members of a large 5-generation Han Chinese family with maternally inherited nonsyndromic adult-onset hearing loss (500008), Yan et al. (2011) identified a heteroplasmic 12201T-C transition in the MTTH gene, affecting the acceptor stem of tRNA-His. The mutation was not found in 342 Han Chinese controls. There was wide variability in age at onset and severity, which correlated with mutation load, but the average age at onset was 29 years. Lymphoblastoid cell lines from 3 mutation carriers showed decreased levels of MTTH mRNA (about 25% of normal) as well as about 50% reduction in mitochondrial translation products compared to controls. Overall oxygen consumption of these cells was about 65% of normal, indicating defective respiration.

Last Updated: Jul 23, 2014

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