Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV003371018 | SCV004086051 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-08-29 | criteria provided, single submitter | clinical testing | The p.E762K variant (also known as c.2284G>A), located in coding exon 14 of the CDH1 gene, results from a G to A substitution at nucleotide position 2284. The glutamic acid at codon 762 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Baylor Genetics | RCV003459851 | SCV004215662 | uncertain significance | Familial cancer of breast | 2023-08-18 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV003624516 | SCV004422603 | uncertain significance | Hereditary diffuse gastric adenocarcinoma | 2023-06-19 | 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. 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. 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 glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 762 of the CDH1 protein (p.Glu762Lys). |