Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000698438 | SCV000827101 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-01-20 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys132Leufs*10) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 576042). This variant has not been reported in the literature in individuals affected with RAD50-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). |
| Ambry Genetics | RCV000698438 | SCV001183081 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-08-02 | criteria provided, single submitter | clinical testing | The c.393_394insTT pathogenic mutation, located in coding exon 4 of the RAD50 gene, results from an insertion of two nucleotides at position 393, causing a translational frameshift with a predicted alternate stop codon (p.K132Lfs*10). 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. |