Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000031020 | SCV000299679 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2016-09-08 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
Consortium of Investigators of Modifiers of BRCA1/2 |
RCV000031020 | SCV000325206 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2015-10-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001852616 | SCV002238175 | pathogenic | Hereditary breast ovarian cancer syndrome | 2021-10-23 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 37439). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected 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.Met658Cysfs*43) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). |
Sharing Clinical Reports Project |
RCV000031020 | SCV000053613 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2007-09-06 | no assertion criteria provided | clinical testing |