ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.626G>A (p.Arg209Lys)

dbSNP: rs1060501243
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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 RCV000468759 SCV000545458 uncertain significance Hereditary diffuse gastric adenocarcinoma 2016-12-04 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a CDH1-related disease. In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. This sequence change replaces arginine with lysine at codon 209 of the CDH1 protein (p.Arg209Lys). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and lysine.

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