Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000568771 | SCV000671834 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-12-28 | criteria provided, single submitter | clinical testing | The p.K545* pathogenic mutation (also known as c.1633A>T), located in coding exon 10 of the RAD50 gene, results from an A to T substitution at nucleotide position 1633. This changes the amino acid from a lysine to a stop codon within coding exon 10. 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 | RCV000568771 | SCV001579622 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-10-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in RAD50 are known to be pathogenic (PMID: 16385572, 19409520). This variant has not been reported in the literature in individuals with RAD50-related conditions. ClinVar contains an entry for this variant (Variation ID: 484693). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys545*) in the RAD50 gene. It is expected to result in an absent or disrupted protein product. |