ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.963G>C (p.Arg321Ser)

dbSNP: rs1060501231
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000477423 SCV000545419 uncertain significance Hereditary diffuse gastric adenocarcinoma 2023-11-17 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 321 of the CDH1 protein (p.Arg321Ser). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with CDH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 406641). 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 tolerated. 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506969 SCV000601001 uncertain significance not specified 2017-04-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379431 SCV002693856 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-09 criteria provided, single submitter clinical testing The p.R321S variant (also known as c.963G>C), located in coding exon 7 of the CDH1 gene, results from a G to C substitution at nucleotide position 963. The arginine at codon 321 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
European Reference Network on Genetic Tumour Risk Syndromes (ERN-GENTURIS), i3s - Instituto de Investigação e Inovação em Saúde, University of Porto RCV000477423 SCV003926709 uncertain significance Hereditary diffuse gastric adenocarcinoma 2022-08-01 criteria provided, single submitter clinical testing PM2 (PMID: 30311375)

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