Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001026257 | SCV001188602 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-12-27 | criteria provided, single submitter | clinical testing | The c.731_732delAT pathogenic mutation (also known as p.Y244*), located in coding exon 5 of the RAD50 gene, results from a deletion of two nucleotides at nucleotide positions 731 to 732. This changes the amino acid from a tyrosine to a stop codon within coding exon 5. 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 | RCV001026257 | SCV001233274 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-06-01 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr244*) 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: 826958). This variant has not been reported in the literature in individuals affected with RAD50-related conditions. This variant is not present in population databases (gnomAD no frequency). |
| Baylor Genetics | RCV003467688 | SCV004209736 | likely pathogenic | Nijmegen breakage syndrome-like disorder | 2021-07-29 | criteria provided, single submitter | clinical testing |