Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000696292 | SCV000824844 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-10-30 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu1024*) 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 (rs753950483, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 26094658). This variant is also known as p.X1023X/c.3069*>-T. ClinVar contains an entry for this variant (Variation ID: 574372). For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV000696292 | SCV001179706 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-11-01 | criteria provided, single submitter | clinical testing | The c.3071delT pathogenic mutation, located in coding exon 20 of the RAD50 gene, results from a deletion of one nucleotide at nucleotide position 3071, causing a translational frameshift with a predicted alternate stop codon (p.L1024*). 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 | RCV003460947 | SCV004207365 | pathogenic | Nijmegen breakage syndrome-like disorder | 2023-07-23 | criteria provided, single submitter | clinical testing |