ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1273G>C (p.Val425Leu)

dbSNP: rs570930882
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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 RCV000552405 SCV000637709 uncertain significance Hereditary diffuse gastric adenocarcinoma 2023-10-22 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 425 of the CDH1 protein (p.Val425Leu). This variant is present in population databases (rs570930882, gnomAD 0.01%). 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: 463706). 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 disruptive. 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.
Color Diagnostics, LLC DBA Color Health RCV000583760 SCV000689441 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-09 criteria provided, single submitter clinical testing
Baylor Genetics RCV004568801 SCV005060100 uncertain significance Familial cancer of breast 2024-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000583760 SCV005095383 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-17 criteria provided, single submitter clinical testing The p.V425L variant (also known as c.1273G>C), located in coding exon 9 of the CDH1 gene, results from a G to C substitution at nucleotide position 1273. The valine at codon 425 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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