Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001965418 | SCV002225275 | pathogenic | Fanconi anemia complementation group O | 2021-06-28 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This nonsense change has been observed in individual(s) with breast and/or ovarian cancer (PMID: 24549055). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser231*) in the RAD51C gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RAD51C are known to be pathogenic (PMID: 20400964, 21990120, 24800917). |