Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001967128 | SCV002205309 | pathogenic | Familial cancer of breast | 2021-07-27 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with BARD1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu513*) in the BARD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BARD1 are known to be pathogenic (PMID: 20077502, 21344236). |
Centre for Mendelian Genomics, |
RCV001967128 | SCV002762789 | uncertain significance | Familial cancer of breast | 2022-12-09 | criteria provided, single submitter | research | PVS1, PM2_SUP |
Myriad Genetics, |
RCV001967128 | SCV004044604 | pathogenic | Familial cancer of breast | 2023-05-23 | 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. |