Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001996932 | SCV002219127 | pathogenic | Fanconi anemia complementation group O | 2021-05-03 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with RAD51C-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.His82Glnfs*22) 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). |
| Ambry Genetics | RCV002458868 | SCV002736811 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-01-05 | criteria provided, single submitter | clinical testing | The c.245_246insGATGTACA pathogenic mutation, located in coding exon 2 of the RAD51C gene, results from an insertion of 8 nucleotides at position 245, causing a translational frameshift with a predicted alternate stop codon (p.H82Qfs*22). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| Myriad Genetics, |
RCV003453830 | SCV004185947 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 3 | 2023-10-09 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |