Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000708162 | SCV000837272 | pathogenic | Familial cancer of breast | 2018-04-16 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon 4 of the BARD1 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Similar deletions have not been reported in the literature in individuals with BARD1-related disease. Loss-of-function variants in BARD1 are known to be pathogenic (PMID: 20077502, 21344236). For these reasons, this variant has been classified as Pathogenic. |