ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.641T>C (p.Leu214Pro)

dbSNP: rs1960741733
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001224024 SCV001396198 uncertain significance Hereditary diffuse gastric adenocarcinoma 2020-01-11 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. This variant has been reported to affect CDH1 protein function (PMID: 16924464, 19268661). This variant has been observed in individuals affected with hereditary diffuse gastric cancer (PMID: 16924464, 28688938, Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 214 of the CDH1 protein (p.Leu214Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline.
European Reference Network on Genetic Tumour Risk Syndromes (ERN-GENTURIS), i3s - Instituto de Investigação e Inovação em Saúde, University of Porto RCV001224024 SCV003926669 uncertain significance Hereditary diffuse gastric adenocarcinoma 2022-08-01 criteria provided, single submitter clinical testing PS4_Supporting; PM2 (PMID: 30311375)

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