Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001305733 | SCV001495079 | uncertain significance | Hereditary diffuse gastric adenocarcinoma | 2023-11-14 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 841 of the CDH1 protein (p.Glu841Gln). This variant is not present in population databases (gnomAD no frequency). 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: 1008404). 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. |
| Ambry Genetics | RCV002430113 | SCV002742592 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-08-19 | criteria provided, single submitter | clinical testing | The p.E841Q variant (also known as c.2521G>C), located in coding exon 16 of the CDH1 gene, results from a G to C substitution at nucleotide position 2521. The glutamic acid at codon 841 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved through mammals but not in all 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. |