Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
3DMed Clinical Laboratory Inc | RCV000677872 | SCV000804033 | pathogenic | Sarcoma | 2017-07-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002531391 | SCV003262532 | pathogenic | Familial cancer of breast | 2023-05-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp114*) in the CHEK2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHEK2 are known to be pathogenic (PMID: 21876083, 24713400). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 560005). 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). |
Myriad Genetics, |
RCV002531391 | SCV004044576 | pathogenic | Familial cancer of breast | 2023-06-23 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |