Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000129908 | SCV000184726 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-04-28 | criteria provided, single submitter | clinical testing | The c.354delT pathogenic mutation, located in coding exon 3 of the RAD50 gene, results from a deletion of one nucleotide at nucleotide position 354, causing a translational frameshift with a predicted alternate stop codon (p.T119Lfs*11). 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 | RCV000129908 | SCV000951978 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-10-26 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Thr119Leufs*11) 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 present in population databases (rs769991580, gnomAD 0.003%). 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: 141403). For these reasons, this variant has been classified as Pathogenic. |