NC_012920.1:m.1494C>T AND streptomycin response - Toxicity - ClinVar

NC_012920.1:m.1494C>T AND streptomycin response - Toxicity

Germline classification:: drug response (1 submission)
Last evaluated:: Jun 15, 2021
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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:: RCV001787385.9

Allele description [Variation Report for NC_012920.1:m.1494C>T]

NC_012920.1:m.1494C>T

Genes:

MT-TS1:mitochondrially encoded tRNA serine 1 (UCN) [Gene - OMIM - HGNC]
MT-RNR1:mitochondrially encoded 12S RNA [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Genomic location:

Preferred name:

NC_012920.1:m.1494C>T

Other names:

m.1494C>T; C1494T

HGVS:

NC_012920.1:m.1494C>T

Nucleotide change:

1494C-T

Links:

Medical Genetics Summaries: m.1494C>T; PharmGKB: 1444699308; PharmGKB: 1444699308PA164744372; PharmGKB: 1444699308PA449753; PharmGKB: 1444699308PA450137; PharmGKB: 1444699308PA450608; PharmGKB: 1444699308PA451512; PharmGKB: 1444699308PA451704; PharmGKB: 1444699308PA452167; OMIM: 561000.0004; dbSNP: rs267606619

NCBI 1000 Genomes Browser:

rs267606619

Condition(s)

Name:: streptomycin response - Toxicity
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002031236	PharmGKB	reviewed by expert panel (Pharmacogenomics knowledge for personalized medicine)	drug response (Jun 15, 2021) Condition: streptomycin response - Toxicity Drug reported used for: Ototoxicity	germline	curation	PubMed (6) [See all records that cite these PMIDs] 14681830, 16380089, 17085680, 21205314, 29876232, 22992668 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002031236

PharmGKB

reviewed by expert panel

(Pharmacogenomics knowledge for personalized medicine)

drug response
(Jun 15, 2021)
Condition: streptomycin response - Toxicity
Drug reported used for: Ototoxicity

germline

curation

PubMed (6)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	curation

Citations

PubMed

Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family.

Zhao H, Li R, Wang Q, Yan Q, Deng JH, Han D, Bai Y, Young WY, Guan MX.

Am J Hum Genet. 2004 Jan;74(1):139-52. Epub 2003 Dec 12.

PubMed [citation]

PMID:: 14681830
PMCID:: PMC1181901

Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation.

Wang Q, Li QZ, Han D, Zhao Y, Zhao L, Qian Y, Yuan H, Li R, Zhai S, Young WY, Guan MX.

Biochem Biophys Res Commun. 2006 Feb 10;340(2):583-8. Epub 2005 Dec 19.

PubMed [citation]

PMID:: 16380089

See all PubMed Citations (6)

Details of each submission

From PharmGKB, SCV002031236.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (6)

Description

PharmGKB Level of Evidence 1A: Level 1A clinical annotations describe variant-drug combinations that have variant-specific prescribing guidance available in a current clinical guideline annotation or an FDA-approved drug label annotation. Annotations of drug labels or clinical guidelines must give prescribing guidance for specific variants (e.g. CYP2C9*3, HLA-B*57:01) or provide mapping from defined allele functions to diplotypes and phenotypes to be used as supporting evidence for a level 1A clinical annotation. Level 1A clinical annotations must also be supported by at least one publication in addition to a clinical guideline or drug label with variant-specific prescribing guidance.

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

Last Updated: Apr 20, 2024

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