NM_022124.6(CDH23):c.5722G>A (p.Val1908Ile) AND Deafness, autosomal recessive 12

Clinical significance:Uncertain significance (Last evaluated: Apr 28, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001102564.1

Allele description [Variation Report for NM_022124.6(CDH23):c.5722G>A (p.Val1908Ile)]

NM_022124.6(CDH23):c.5722G>A (p.Val1908Ile)

Gene:
CDH23:cadherin related 23 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.1
Genomic location:
Preferred name:
NM_022124.6(CDH23):c.5722G>A (p.Val1908Ile)
HGVS:
  • NC_000010.11:g.71785640G>A
  • NG_008835.1:g.393694G>A
  • NM_022124.6:c.5722G>AMANE SELECT
  • NP_071407.4:p.Val1908Ile
  • NC_000010.10:g.73545397G>A
  • NM_022124.5:c.5722G>A
Protein change:
V1908I
Links:
dbSNP: rs368828743
NCBI 1000 Genomes Browser:
rs368828743
Molecular consequence:
  • NM_022124.6:c.5722G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Deafness, autosomal recessive 12 (DFNB12)
Identifiers:
MONDO: MONDO:0011067; MedGen: C1832394; Orphanet: 90636; OMIM: 601386

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001259248Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Uncertain significance
(Apr 28, 2017)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

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

Citations

PubMed

Distribution and frequencies of CDH23 mutations in Japanese patients with non-syndromic hearing loss.

Wagatsuma M, Kitoh R, Suzuki H, Fukuoka H, Takumi Y, Usami S.

Clin Genet. 2007 Oct;72(4):339-44.

PubMed [citation]
PMID:
17850630

Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study.

Miyagawa M, Nishio SY, Usami S.

PLoS One. 2012;7(8):e40366. doi: 10.1371/journal.pone.0040366. Epub 2012 Aug 10.

PubMed [citation]
PMID:
22899989
PMCID:
PMC3416829
See all PubMed Citations (5)

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001259248.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Nov 27, 2021

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