Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000223038 | SCV000277353 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-01-16 | criteria provided, single submitter | clinical testing | The c.1168_1169delGA pathogenic mutation, located in coding exon 8 of the RAD50 gene, results from a deletion of two nucleotides at nucleotide positions 1168 to 1169, causing a translational frameshift with a predicted alternate stop codon (p.E390Kfs*4). 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 | RCV000223038 | SCV001579283 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-10-09 | 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: 233055). This variant has not been reported in the literature in individuals affected with RAD50-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu390Lysfs*4) 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). |