ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.713A>G (p.Asn238Ser)

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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 RCV003028375 SCV003310976 uncertain significance Hereditary diffuse gastric adenocarcinoma 2022-08-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CDH1-related conditions. 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 tolerated. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 238 of the CDH1 protein (p.Asn238Ser).
Ambry Genetics RCV004603272 SCV005095397 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-23 criteria provided, single submitter clinical testing The p.N238S variant (also known as c.713A>G), located in coding exon 6 of the CDH1 gene, results from an A to G substitution at nucleotide position 713. The asparagine at codon 238 is replaced by serine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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