Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000546881 | SCV000650016 | pathogenic | Fanconi anemia complementation group O | 2023-03-07 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with RAD51C-related conditions (PMID: 32427313). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 471445). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.His179Thrfs*5) 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 | RCV002350330 | SCV002646368 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-08-31 | criteria provided, single submitter | clinical testing | The c.535delC pathogenic mutation, located in coding exon 3 of the RAD51C gene, results from a deletion of one nucleotide at nucleotide position 535, causing a translational frameshift with a predicted alternate stop codon (p.H179Tfs*5). 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. |
| Baylor Genetics | RCV003470763 | SCV004208049 | likely pathogenic | Breast-ovarian cancer, familial, susceptibility to, 3 | 2021-12-04 | criteria provided, single submitter | clinical testing |