Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000215726 | SCV000278499 | pathogenic | Hereditary cancer-predisposing syndrome | 2015-09-23 | criteria provided, single submitter | clinical testing | The p.Q762* pathogenic mutation (also known as c.2284C>T), located in coding exon 14 of the RAD50 gene, results from a C to T substitution at nucleotide position 2284. This changes the amino acid from a glutamine to a stop codon within coding exon 14. Since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294). |
| Invitae | RCV000215726 | SCV002196391 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-12-15 | criteria provided, single submitter | clinical testing | 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. ClinVar contains an entry for this variant (Variation ID: 234016). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln762*) 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). |