Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000527322 | SCV000651710 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 4 | 2017-07-21 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 4-6 of the RAD51D gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. This deletion has not been reported in the literature in individuals with RAD51D-related disease. Loss-of-function variants in RAD51D are known to be pathogenic (PMID: 15109494, 23149936). For these reasons, this variant has been classified as Pathogenic. |