ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5009T>A (p.Val1670Asp) (rs397517333)

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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 RCV000039193 SCV000062877 uncertain significance not specified 2010-06-18 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic.
Invitae RCV001039006 SCV001202512 uncertain significance not provided 2019-12-19 criteria provided, single submitter clinical testing This sequence change replaces valine with aspartic acid at codon 1670 of the CDH23 protein (p.Val1670Asp). The valine residue is highly conserved and there is a large physicochemical difference between valine and aspartic acid. This variant is present in population databases (rs397517333, ExAC 0.04%). This variant has not been reported in the literature in individuals with CDH23-related conditions. ClinVar contains an entry for this variant (Variation ID: 45959). 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 C45"). 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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