Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000458297 | SCV000547964 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-07-27 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg823*) in the RAD50 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RAD50 are known to be pathogenic (PMID: 19409520). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RAD50-related conditions. ClinVar contains an entry for this variant (Variation ID: 408347). For these reasons, this variant has been classified as Pathogenic. |
| Revvity Omics, |
RCV001782940 | SCV002019625 | pathogenic | Nijmegen breakage syndrome-like disorder | 2019-01-17 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV000458297 | SCV002736187 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-09-02 | criteria provided, single submitter | clinical testing | The p.R823* pathogenic mutation (also known as c.2467C>T), located in coding exon 15 of the RAD50 gene, results from a C to T substitution at nucleotide position 2467. This changes the amino acid from an arginine to a stop codon within coding exon 15. 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 | RCV001782940 | SCV004207410 | likely pathogenic | Nijmegen breakage syndrome-like disorder | 2023-05-03 | criteria provided, single submitter | clinical testing |