ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.32T>G (p.Leu11Arg)

dbSNP: rs1393903966
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000709392 SCV000839071 uncertain significance Hereditary diffuse gastric adenocarcinoma 2018-07-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002458331 SCV002612013 uncertain significance Hereditary cancer-predisposing syndrome 2024-09-22 criteria provided, single submitter clinical testing The p.L11R variant (also known as c.32T>G), located in coding exon 1 of the CDH1 gene, results from a T to G substitution at nucleotide position 32. The leucine at codon 11 is replaced by arginine, an amino acid with dissimilar properties. This variant was reported in 1 of 701 Brazilian individuals with features consistent with a hereditary breast and/or ovarian cancer syndrome (Faria JP et al. Breast Cancer Res Treat, 2024 Jun). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000709392 SCV004430586 uncertain significance Hereditary diffuse gastric adenocarcinoma 2023-05-07 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 584913). This variant has not been reported in the literature in individuals affected with CDH1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 11 of the CDH1 protein (p.Leu11Arg). 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.

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