ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1502T>G (p.Val501Gly)

dbSNP: rs1960968094
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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 RCV001206763 SCV001378087 uncertain significance Hereditary diffuse gastric adenocarcinoma 2019-09-01 criteria provided, single submitter clinical testing 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: "Possibly Damaging"; 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. This variant has not been reported in the literature in individuals with CDH1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with glycine at codon 501 of the CDH1 protein (p.Val501Gly). The valine residue is highly conserved and there is a moderate physicochemical difference between valine and glycine.

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