Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001214025 | SCV001385688 | pathogenic | Familial cancer of breast; Fanconi anemia complementation group J | 2023-07-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser380Valfs*4) in the BRIP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRIP1 are known to be pathogenic (PMID: 16116423, 17033622, 21964575). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRIP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 943764). For these reasons, this variant has been classified as Pathogenic. |
Myriad Genetics, |
RCV003336337 | SCV004045307 | pathogenic | Familial cancer of breast | 2023-06-01 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |