ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2876C>T (p.Ala959Val) (rs779133533)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000220677 SCV000271554 uncertain significance not specified 2015-04-30 criteria provided, single submitter clinical testing The p.Ala959Val variant in CDH23 has not been previously reported in individuals with hearing loss, but has been identified in 2/63460 European chromosomes by t he Exome Aggregation Consortium (ExAC, Computat ional prediction tools and conservation analysis do not provide strong support f or or against an impact to the protein. In summary, the clinical significance of the p.Ala959Val variant is uncertain.
Invitae RCV001244237 SCV001417443 uncertain significance not provided 2019-10-09 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 959 of the CDH23 protein (p.Ala959Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs779133533, ExAC 0.01%). This variant has not been reported in the literature in individuals with CDH23-related conditions. ClinVar contains an entry for this variant (Variation ID: 228488). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). 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. RCV001272547 SCV001454639 uncertain significance Usher syndrome type 1 2020-04-15 no assertion criteria provided clinical testing

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