Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000687163 | SCV000814715 | pathogenic | Fanconi anemia complementation group O | 2024-01-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val25Phefs*2) 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, 29278735). This variant is not present in population databases (gnomAD no frequency). A similar premature translational stop signal beginning at this codon has been observed in individual(s) with ovarian cancer (PMID: 21990120). For these reasons, this variant has been classified as Pathogenic. |