Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000535884 | SCV000660361 | pathogenic | Fanconi anemia complementation group O | 2023-08-14 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. RNA analysis performed to evaluate the impact of this premature translational stop signal on mRNA splicing indicates it does not significantly alter splicing (Invitae). ClinVar contains an entry for this variant (Variation ID: 478609). This variant has not been reported in the literature in individuals affected with RAD51C-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys84*) 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, 29278735). |
| Ambry Genetics | RCV000573983 | SCV000663757 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-11-05 | criteria provided, single submitter | clinical testing | The p.K84* pathogenic mutation (also known as c.250A>T), located in coding exon 2 of the RAD51C gene, results from an A to T substitution at nucleotide position 250. This changes the amino acid from a lysine to a stop codon within coding exon 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. |
| Color Diagnostics, |
RCV000573983 | SCV001353129 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-04-22 | criteria provided, single submitter | clinical testing | This variant changes 1 nucleotide in exon 2 of the RAD51C gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. 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. |
| Fulgent Genetics, |
RCV002497205 | SCV002809745 | likely pathogenic | Breast-ovarian cancer, familial, susceptibility to, 3; Fanconi anemia complementation group O | 2021-08-03 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003459268 | SCV004208024 | likely pathogenic | Breast-ovarian cancer, familial, susceptibility to, 3 | 2022-10-21 | criteria provided, single submitter | clinical testing |