Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000582202 | SCV000689752 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-08-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003500579 | SCV004254025 | uncertain significance | Familial cancer of breast | 2023-06-09 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 491659). 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 methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 331 of the CHEK2 protein (p.Met331Thr). |