ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1293C>G (p.Asn431Lys)

gnomAD frequency: 0.00002  dbSNP: rs767350265
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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 RCV001210698 SCV001382197 uncertain significance Hereditary diffuse gastric adenocarcinoma 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 431 of the CDH1 protein (p.Asn431Lys). This variant is present in population databases (rs767350265, gnomAD 0.02%). 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: 940999). 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. 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.
Ambry Genetics RCV004033802 SCV005022326 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-16 criteria provided, single submitter clinical testing The p.N431K variant (also known as c.1293C>G), located in coding exon 9 of the CDH1 gene, results from a C to G substitution at nucleotide position 1293. The asparagine at codon 431 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. 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.

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