Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000229634 | SCV000289018 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-07-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg656*) 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 present in population databases (no rsID available, gnomAD 0.003%). 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: 240219). For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV000229634 | SCV000671754 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-01-31 | criteria provided, single submitter | clinical testing | The p.R656* pathogenic mutation (also known as c.1966C>T), located in coding exon 12 of the RAD50 gene, results from a C to T substitution at nucleotide position 1966. This changes the amino acid from an arginine to a stop codon within coding exon 12. 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. |
| Fulgent Genetics, |
RCV002500789 | SCV002809944 | likely pathogenic | Nijmegen breakage syndrome-like disorder | 2022-02-23 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV002500789 | SCV004207448 | likely pathogenic | Nijmegen breakage syndrome-like disorder | 2022-03-27 | criteria provided, single submitter | clinical testing |