Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001041486 | SCV001205107 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 4 | 2024-11-02 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val169Glyfs*25) in the RAD51D gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RAD51D are known to be pathogenic (PMID: 21822267). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RAD51D-related conditions. ClinVar contains an entry for this variant (Variation ID: 839675). For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV003372948 | SCV004096121 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-08-17 | criteria provided, single submitter | clinical testing | The c.506delT pathogenic mutation, located in coding exon 6 of the RAD51D gene, results from a deletion of one nucleotide at nucleotide position 506, causing a translational frameshift with a predicted alternate stop codon (p.V169Gfs*25). 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, |
RCV001041486 | SCV004933663 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 4 | 2024-01-04 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |