Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001387048 | SCV001587542 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-03-07 | criteria provided, single submitter | clinical testing | 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). This sequence change creates a premature translational stop signal (p.Glu139*) 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). ClinVar contains an entry for this variant (Variation ID: 1073908). For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV001387048 | SCV002628084 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-02-23 | criteria provided, single submitter | clinical testing | The p.E139* pathogenic mutation (also known as c.415G>T), located in coding exon 4 of the RAD50 gene, results from a G to T substitution at nucleotide position 415. This changes the amino acid from a glutamic acid to a stop codon within coding exon 4. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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. |