Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001010764 | SCV001171004 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-10-12 | criteria provided, single submitter | clinical testing | The c.1287_1290delAGAT pathogenic mutation, located in coding exon 9 of the RAD50 gene, results from a deletion of 4 nucleotides at nucleotide positions 1287 to 1290, causing a translational frameshift with a predicted alternate stop codon (p.I429Mfs*3). 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 | RCV001010764 | SCV001586532 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-10-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 818805). 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.Ile429Metfs*3) 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). |