Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000548794 | SCV000628242 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-03-31 | 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.Thr1023*) 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: 457433). For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV000548794 | SCV000663738 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-08-30 | criteria provided, single submitter | clinical testing | The c.3067_3070delACTT pathogenic mutation, located in coding exon 20 of the RAD50 gene, results from a deletion of 4 nucleotides (ACTT) at nucleotide positions 3067 to 3070. This changes the amino acid from a threonine to a stop codon within coding exon 20 (p.T1023*). 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. |