Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001993176 | SCV002237160 | pathogenic | Fanconi anemia complementation group O | 2021-02-09 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val25Metfs*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). This variant is present in population databases (rs775482687, ExAC 0.001%). This frameshift change has been observed in individual(s) with ovarian cancer (PMID: 21990120). For these reasons, this variant has been classified as Pathogenic. |