ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9883A>C (p.Thr3295Pro) (rs781716568)

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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 RCV000213175 SCV000271578 uncertain significance not specified 2015-01-30 criteria provided, single submitter clinical testing The p.Thr3295Pro variant in CDH23 has not been previously reported in individual s with hearing loss, but has been identified in 3/10434 of Latino chromosomes an d 1/58040 European chromosomes by the Exome Aggregation Consortium (ExAC, http:/ /exac.broadinstitute.org; dbSNP rs368112637). Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Thr3295Pro variant is uncertain.
Invitae RCV001052960 SCV001217197 uncertain significance not provided 2019-12-16 criteria provided, single submitter clinical testing This sequence change replaces threonine with proline at codon 3295 of the CDH23 protein (p.Thr3295Pro). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and proline. This variant is present in population databases (rs781716568, 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: 228511). 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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