ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2890C>T (p.Arg964Trp)

gnomAD frequency: 0.00001  dbSNP: rs768031780
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000377715 SCV000339780 uncertain significance not provided 2016-03-02 criteria provided, single submitter clinical testing
Invitae RCV000377715 SCV001223274 uncertain significance not provided 2024-01-02 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 964 of the CDH23 protein (p.Arg964Trp). This variant is present in population databases (rs768031780, gnomAD 0.002%). This missense change has been observed in individual(s) with deafness (PMID: 30123251). ClinVar contains an entry for this variant (Variation ID: 286368). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CDH23 protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001833361 SCV002089890 uncertain significance Usher syndrome type 1 2021-08-16 no assertion criteria provided clinical testing

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