ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys) (rs111033509)

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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 RCV000039151 SCV000062835 uncertain significance not specified 2009-12-13 criteria provided, single submitter clinical testing
Invitae RCV001056228 SCV001220660 uncertain significance not provided 2019-12-11 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 1133 of the CDH23 protein (p.Glu1133Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs111033509, ExAC 0.3%). This variant has not been reported in the literature in individuals with CDH23-related conditions. ClinVar contains an entry for this variant (Variation ID: 45918). 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: "Tolerated"; 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. RCV001272885 SCV001455308 uncertain significance Usher syndrome type 1 2020-09-16 no assertion criteria provided clinical testing

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