Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001881205 | SCV002137613 | uncertain significance | Familial cancer of breast | 2023-06-14 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1378560). 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 CHEK2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 443 of the CHEK2 protein (p.Gly443Glu). |
| Ambry Genetics | RCV002386645 | SCV002692258 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-08-25 | criteria provided, single submitter | clinical testing | The p.G443E variant (also known as c.1328G>A), located in coding exon 11 of the CHEK2 gene, results from a G to A substitution at nucleotide position 1328. The glycine at codon 443 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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 | RCV001881205 | SCV005057503 | uncertain significance | Familial cancer of breast | 2024-03-18 | criteria provided, single submitter | clinical testing |