Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000543198 | SCV000633211 | uncertain significance | Familial cancer of breast | 2023-12-18 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 232 of the CHEK2 protein (p.Gly232Val). This variant is present in population databases (rs779322187, gnomAD 0.003%). This missense change has been observed in individual(s) with breast cancer and/or prostate cancer (PMID: 29659569, 35264596). ClinVar contains an entry for this variant (Variation ID: 460852). 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 | RCV000575304 | SCV000669282 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-08-17 | criteria provided, single submitter | clinical testing | The p.G232V variant (also known as c.695G>T), located in coding exon 5 of the CHEK2 gene, results from a G to T substitution at nucleotide position 695. The glycine at codon 232 is replaced by valine, an amino acid with dissimilar properties. This alteration was detected in 1/121 prostate cancer cases (Paulo P et al. PLoS Genet, 2018 04;14:e1007355). 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. |
| Mendelics | RCV000543198 | SCV000839482 | uncertain significance | Familial cancer of breast | 2018-07-02 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV000543198 | SCV004217518 | uncertain significance | Familial cancer of breast | 2023-10-09 | criteria provided, single submitter | clinical testing |