Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000218400 | SCV000274527 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-06-15 | criteria provided, single submitter | clinical testing | The c.1300_1306delGATAAGA pathogenic mutation, located in coding exon 9 of the RAD50 gene, results from a deletion of 7 nucleotides at nucleotide positions 1300 to 1306, causing a translational frameshift with a predicted alternate stop codon (p.D434Kfs*7). 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 | RCV000218400 | SCV000628148 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-07-14 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp434Lysfs*7) 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 (rs774833591, gnomAD 0.0009%). 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: 230850). For these reasons, this variant has been classified as Pathogenic. |