ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1397T>C (p.Leu466Pro)

dbSNP: rs2152134822
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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 RCV001932272 SCV002124004 uncertain significance Hereditary diffuse gastric adenocarcinoma 2021-01-03 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. 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: "Benign"; Align-GVGD: "Class C65"). This variant has not been reported in the literature in individuals with CDH1-related conditions. This sequence change replaces leucine with proline at codon 466 of the CDH1 protein (p.Leu466Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline.

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