Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001341934 | SCV001535831 | uncertain significance | Hereditary diffuse gastric adenocarcinoma | 2021-09-09 | criteria provided, single submitter | clinical testing | 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 disruptive. This variant has not been reported in the literature in individuals affected with CDH1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with leucine at codon 365 of the CDH1 protein (p.Val365Leu). The valine residue is highly conserved and there is a small physicochemical difference between valine and leucine. |
| Ambry Genetics | RCV003169631 | SCV003867759 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-02-13 | criteria provided, single submitter | clinical testing | The p.V365L variant (also known as c.1093G>C), located in coding exon 8 of the CDH1 gene, results from a G to C substitution at nucleotide position 1093. The valine at codon 365 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate 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. |