ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.4694A>C (p.Tyr1565Ser) (rs727504606)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155857 SCV000205568 uncertain significance not specified 2013-06-12 criteria provided, single submitter clinical testing The Tyr1565Ser variant in CDH23 has not been reported in individuals with hearin g loss or in large population studies. Computational analyses (biochemical amino acid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Tyr1565Ser variant may impact the protein, though this information is not predi ctive enough to determine pathogenicity. In summary, additional data is needed t o determine the clinical significance of this variant.
Invitae RCV001225697 SCV001397983 uncertain significance not provided 2019-11-04 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with serine at codon 1565 of the CDH23 protein (p.Tyr1565Ser). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CDH23-related conditions. ClinVar contains an entry for this variant (Variation ID: 179073). 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 C65"). 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.

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