NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile) AND Autosomal recessive nonsyndromic hearing loss 12

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 27, 2017
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV001107060.4

Allele description [Variation Report for NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile)]

NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile)

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.5131G>A (p.Val1711Ile)

HGVS:

NC_000010.11:g.71778252G>A
NG_008835.1:g.386306G>A
NM_022124.6:c.5131G>AMANE SELECT
NP_071407.4:p.Val1711Ile
NC_000010.10:g.73538009G>A
NM_022124.5:c.5131G>A
NM_022124.6(CDH23):c.5131G>AMANE SELECT
p.Val1711Ile

Protein change:

V1711I

Links:

dbSNP: rs181611778

NCBI 1000 Genomes Browser:

rs181611778

Molecular consequence:

NM_022124.6:c.5131G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Autosomal recessive nonsyndromic hearing loss 12
Synonyms:: Deafness, autosomal recessive 12
Identifiers:: MONDO: MONDO:0011067; MedGen: C1832394; Orphanet: 90636; OMIM: 601386

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001264189	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Uncertain significance (Apr 27, 2017)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 25587757, 22899989, 17850630 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001264189

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Uncertain significance
(Apr 27, 2017)

germline

clinical testing

PubMed (3)
[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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Clinical application of a custom AmpliSeq library and ion torrent PGM sequencing to comprehensive mutation screening for deafness genes.

Nishio SY, Hayashi Y, Watanabe M, Usami S.

Genet Test Mol Biomarkers. 2015 Apr;19(4):209-17. doi: 10.1089/gtmb.2014.0252. Epub 2015 Jan 14.

PubMed [citation]

PMID:: 25587757
PMCID:: PMC4394162

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 (3)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001264189.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

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.

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

Last Updated: Feb 20, 2024

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