Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000215584 | SCV000275502 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-01-21 | criteria provided, single submitter | clinical testing | The c.541_542delTCinsA pathogenic mutation, located in coding exon 4 of the RAD50 gene, results from the deletion of two nucleotides and insertion of one nucleotide causing a translational frameshift with a predicted alternate stop codon (p.S181Kfs*9). 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. |
| Invitae | RCV000215584 | SCV000823808 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-09-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser181Lysfs*9) 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. For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV003469037 | SCV004207435 | likely pathogenic | Nijmegen breakage syndrome-like disorder | 2022-07-05 | criteria provided, single submitter | clinical testing |