Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000465331 | SCV000550230 | pathogenic | Fanconi anemia complementation group O | 2016-04-13 | criteria provided, single submitter | clinical testing | While this particular variant has not been reported in the literature, truncating variants in RAD51C are known to be pathogenic (PMID: 20400964, 21990120, 24800917). For these reasons, this variant has been classified as Pathogenic. This sequence change deletes 4 nucleotides from exon 6 of the RAD51C mRNA (c.851_854delATCA), causing a frameshift at codon 284. This creates a premature translational stop signal (p.Asn284Argfs*2) and is expected to result in an absent or disrupted protein product. |
| Color Diagnostics, |
RCV001525044 | SCV001735041 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-11-07 | criteria provided, single submitter | clinical testing | This variant deletes 4 nucleotides in exon 6 of the RAD51C gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with breast and/or ovarian cancer (PMID: 26534844). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of RAD51C function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. |
| Ambry Genetics | RCV001525044 | SCV002681545 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-12-08 | criteria provided, single submitter | clinical testing | The c.851_854delATCA pathogenic mutation, located in coding exon 6 of the RAD51C gene, results from a deletion of 4 nucleotides at nucleotide positions 851 to 854, causing a translational frameshift with a predicted alternate stop codon (p.N284Rfs*2). 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, |
RCV003449139 | SCV004185959 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 3 | 2023-10-10 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
| Baylor Genetics | RCV003449139 | SCV004208045 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 3 | 2022-01-14 | criteria provided, single submitter | clinical testing |