Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001039714 | SCV001203257 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-10-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with RAD50-related conditions. ClinVar contains an entry for this variant (Variation ID: 838210). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln655*) 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: 16385572, 19409520). |
| Ambry Genetics | RCV001039714 | SCV002722228 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-01-03 | criteria provided, single submitter | clinical testing | The p.Q655* pathogenic mutation (also known as c.1963C>T), located in coding exon 12 of the RAD50 gene, results from a C to T substitution at nucleotide position 1963. This changes the amino acid from a glutamine to a stop codon within coding exon 12. 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. |