ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.826C>G (p.Leu276Val)

dbSNP: rs750911401
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000217001 SCV000273656 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-20 criteria provided, single submitter clinical testing The p.L276V variant (also known as c.826C>G), located in coding exon 6 of the CDH1 gene, results from a C to G substitution at nucleotide position 826. The leucine at codon 276 is replaced by valine, an amino acid with highly similar properties. This amino acid position is not well conserved; however, valine is the reference amino acid in several 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000459067 SCV000545431 uncertain significance Hereditary diffuse gastric adenocarcinoma 2024-04-24 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 276 of the CDH1 protein (p.Leu276Val). This variant is present in population databases (rs750911401, 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: 230201). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Counsyl RCV000459067 SCV000785539 uncertain significance Hereditary diffuse gastric adenocarcinoma 2017-09-06 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000217001 SCV002529214 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-16 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV000459067 SCV004019543 uncertain significance Hereditary diffuse gastric adenocarcinoma 2023-03-03 criteria provided, single submitter clinical testing This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.
Baylor Genetics RCV004567518 SCV005060076 uncertain significance Familial cancer of breast 2024-02-22 criteria provided, single submitter clinical testing

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