Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001018253 | SCV001179467 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-05-09 | criteria provided, single submitter | clinical testing | The p.Q1014* pathogenic mutation (also known as c.3040C>T), located in coding exon 20 of the RAD50 gene, results from a C to T substitution at nucleotide position 3040. This changes the amino acid from a glutamine to a stop codon within coding exon 20. 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 | RCV001018253 | SCV001403854 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-10-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln1014*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with RAD50-related conditions. ClinVar contains an entry for this variant (Variation ID: 822693). For these reasons, this variant has been classified as Pathogenic. |