Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001238158 | SCV001410957 | pathogenic | Hereditary breast ovarian cancer syndrome | 2019-10-26 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has not been reported in the literature in individuals with BRCA1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys32*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. |
Brotman Baty Institute, |
RCV001076565 | SCV001242341 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |