Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000706598 | SCV000835658 | pathogenic | Familial cancer of breast | 2018-02-28 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with CHEK2-related disease. This sequence change creates a premature translational stop signal (p.Asn341Thrfs*8) in the CHEK2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Loss-of-function variants in CHEK2 are known to be pathogenic (PMID: 21876083, 24713400). For these reasons, this variant has been classified as Pathogenic. |