Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000703645 | SCV000832554 | pathogenic | Familial cancer of breast | 2024-01-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ile249Leufs*3) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BARD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 580180). For these reasons, this variant has been classified as Pathogenic. |
Myriad Genetics, |
RCV000703645 | SCV004045208 | pathogenic | Familial cancer of breast | 2023-05-19 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |