ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5291G>T (p.Trp1764Leu)

dbSNP: rs1840895417
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001058204 SCV001222757 uncertain significance not provided 2019-11-23 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CDH23-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tryptophan with leucine at codon 1764 of the CDH23 protein (p.Trp1764Leu). The tryptophan residue is highly conserved and there is a small physicochemical difference between tryptophan and leucine. 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.

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