ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9904G>A (p.Glu3302Lys) (rs368743687)

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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 RCV000218211 SCV000271579 uncertain significance not specified 2015-01-26 criteria provided, single submitter clinical testing The p.Glu3302Lys variant in CDH23 has been previously reported in 1 individual w ith Usher syndrome type I; however a second variant in CDH23 was not identified in that individual (Besnard 2014). It has also been identified in 2/57864 Europe an chromosomes and 4/22950 Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs368743687). Although this varian t has been seen in the general population, its frequency is not high enough to r ule out a pathogenic role. Computational prediction tools and conservation analy sis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical sign ificance of the p.Glu3302Lys variant is uncertain.
Invitae RCV001041568 SCV001205192 uncertain significance not provided 2019-12-20 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 3302 of the CDH23 protein (p.Glu3302Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs368743687, ExAC 0.03%). This variant has not been reported in the literature in individuals with CDH23-related conditions. ClinVar contains an entry for this variant (Variation ID: 228512). 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.

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