ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.2281G>C (p.Gly761Arg)

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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 RCV003511713 SCV004312481 uncertain significance Hereditary diffuse gastric adenocarcinoma 2023-08-06 criteria provided, single submitter clinical testing Studies have shown that this missense change alters CDH1 gene expression (PMID: 35327954). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This missense change has been observed in individuals with diffuse gastric cancer (PMID: 35327954; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 761 of the CDH1 protein (p.Gly761Arg).

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