ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1385T>C (p.Phe462Ser)

dbSNP: rs587782622
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132005 SCV000187064 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-02 criteria provided, single submitter clinical testing The p.F462S variant (also known as c.1385T>C), located in coding exon 10 of the CDH1 gene, results from a T to C substitution at nucleotide position 1385. The phenylalanine at codon 462 is replaced by serine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001857466 SCV002193505 uncertain significance Hereditary diffuse gastric adenocarcinoma 2022-07-24 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 142659). This variant has not been reported in the literature in individuals affected with CDH1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 462 of the CDH1 protein (p.Phe462Ser).
European Reference Network on Genetic Tumour Risk Syndromes (ERN-GENTURIS), i3s - Instituto de Investigação e Inovação em Saúde, University of Porto RCV001857466 SCV003926785 uncertain significance Hereditary diffuse gastric adenocarcinoma 2022-08-01 criteria provided, single submitter clinical testing PM2 (PMID: 30311375)
Baylor Genetics RCV004567147 SCV005060049 uncertain significance Familial cancer of breast 2024-03-28 criteria provided, single submitter clinical testing

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