Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000707759 | SCV000836869 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 4 | 2018-07-27 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon 3 of the RAD51D gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has been observed in an individual affected with ovarian cancer (PMID: 26681312). Loss-of-function variants in RAD51D are known to be pathogenic (PMID: 21822267). For these reasons, this variant has been classified as Pathogenic. |