Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001067329 | SCV001232383 | pathogenic | Fanconi anemia complementation group O | 2019-11-12 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in RAD51C are known to be pathogenic (PMID: 20400964, 21990120, 24800917). This variant has been observed in an individual affected with ovarian cancer (PMID: 26057125). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro127Argfs*28) in the RAD51C gene. It is expected to result in an absent or disrupted protein product. |
MGZ Medical Genetics Center | RCV002290581 | SCV002579367 | likely pathogenic | Breast-ovarian cancer, familial, susceptibility to, 3 | 2021-07-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002355089 | SCV002622695 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-08-19 | criteria provided, single submitter | clinical testing | The c.379_380insG pathogenic mutation, located in coding exon 2 of the RAD51C gene, results from an insertion of one nucleotide at position 379, causing a translational frameshift with a predicted alternate stop codon (p.P127Rfs*28). This alteration was identified in a high-risk BRCA1/BRCA2 negative individual diagnosed with ovarian cancer (Janatova M et al. PLoS ONE, 2015 Jun;10:e0127711). In addition to the clinical data presented in the literature, 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, |
RCV002290581 | SCV004930607 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 3 | 2024-01-02 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
CZECANCA consortium | RCV001271005 | SCV001451817 | pathogenic | Breast and/or ovarian cancer | 2019-06-11 | no assertion criteria provided | clinical testing |