ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5132T>C (p.Val1711Ala)

gnomAD frequency: 0.00001  dbSNP: rs762613557
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001245589 SCV001418886 uncertain significance not provided 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 1711 of the CDH23 protein (p.Val1711Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine. This variant is present in population databases (rs762613557, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with CDH23-related conditions. 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 C55"). 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. RCV001278266 SCV001465264 uncertain significance Usher syndrome type 1 2020-04-16 no assertion criteria provided clinical testing

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