NC_012920.1(MT-TS1):m.7462C>T AND Mitochondrial non-syndromic sensorineural hearing loss

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV000778059.2

Allele description [Variation Report for NC_012920.1(MT-TS1):m.7462C>T]

NC_012920.1(MT-TS1):m.7462C>T

Gene:

MT-TS1:mitochondrially encoded tRNA serine 1 (UCN) [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Genomic location:

Preferred name:

NC_012920.1(MT-TS1):m.7462C>T

HGVS:

NC_012920.1:m.7462C>T
NC_012920.1:g.7462C>T

Links:

dbSNP: rs1569484151

NCBI 1000 Genomes Browser:

rs1569484151

Condition(s)

Name:: Mitochondrial non-syndromic sensorineural hearing loss
Synonyms:: Deafness, nonsyndromic sensorineural, mitochondrial
Identifiers:: MONDO: MONDO:0010779; MedGen: C3151897; Orphanet: 90641; OMIM: 500008

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000914175	GeneReviews	no classification provided	not provided	maternal	literature only	PubMed (2) [See all records that cite these PMIDs] 20722495, 20301595

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000914175

GeneReviews

no classification provided

not provided

maternal

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	unknown	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Role of the mitochondrial mutations, m.827A>G and the novel m.7462C>T, in the origin of hearing loss.

Uehara DT, Rincon D, Abreu-Silva RS, Auricchio MT, Tabith A, Kok F, Mingroni-Netto RC.

Genet Test Mol Biomarkers. 2010 Oct;14(5):611-6. doi: 10.1089/gtmb.2010.0011. Epub 2010 Aug 19.

PubMed [citation]

PMID:: 20722495

Nonsyndromic Hearing Loss and Deafness, Mitochondrial.

Usami S, Nishio S.

2004 Oct 22 [updated 2018 Jun 14]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 20301595

Details of each submission

From GeneReviews, SCV000914175.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 19, 2024

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