Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000129139 | SCV000183860 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-04-28 | criteria provided, single submitter | clinical testing | The c.399_400delTG pathogenic mutation, located in coding exon 4 of the RAD50 gene, results from a deletion of two nucleotides at nucleotide positions 399 to 400, causing a translational frameshift with a predicted alternate stop codon (p.A134Rfs*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 | RCV000129139 | SCV000255303 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-08-16 | 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: 140899). This premature translational stop signal has been observed in individual(s) with RAD50-related condition (PMID: 24763289). This variant is present in population databases (rs763407399, gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala134Argfs*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). |