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NM_001292063.2(OTOG):c.385G>A (p.Val129Met) AND OTOG-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 24, 2024
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:
RCV004752803.1

Allele description [Variation Report for NM_001292063.2(OTOG):c.385G>A (p.Val129Met)]

NM_001292063.2(OTOG):c.385G>A (p.Val129Met)

Gene:
OTOG:otogelin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_001292063.2(OTOG):c.385G>A (p.Val129Met)
HGVS:
  • NC_000011.10:g.17553211G>A
  • NG_033191.2:g.10839G>A
  • NM_001277269.2:c.421G>A
  • NM_001292063.2:c.385G>AMANE SELECT
  • NP_001264198.1:p.Val141Met
  • NP_001264198.1:p.Val141Met
  • NP_001278992.1:p.Val129Met
  • NC_000011.9:g.17574758G>A
  • NM_001277269.1:c.421G>A
  • NM_001277269.2:c.[421G>A]
Protein change:
V129M
Links:
dbSNP: rs552304627
NCBI 1000 Genomes Browser:
rs552304627
Molecular consequence:
  • NM_001277269.2:c.421G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001292063.2:c.385G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
OTOG-related disorder
Synonyms:
OTOG-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005344918PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Apr 24, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005344918.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The OTOG c.421G>A variant is predicted to result in the amino acid substitution p.Val141Met. This variant was reported in an individual with non-syndromic hearing loss (Table S6, Quaio et al. 2022. PubMed ID: 36147510). This variant is reported in 0.19% of alleles in individuals of Latino descent in gnomAD, including one homozygous individual. While we suspect this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Dec 22, 2024