ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.610G>T (p.Val204Phe)

dbSNP: rs876661028
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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 RCV001234061 SCV001406687 uncertain significance Hereditary diffuse gastric adenocarcinoma 2019-08-29 criteria provided, single submitter clinical testing 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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 phenylalanine at codon 204 of the CDH1 protein (p.Val204Phe). The valine residue is moderately conserved and there is a small physicochemical difference between valine and phenylalanine.

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