Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001019558 | SCV001180933 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-04-09 | criteria provided, single submitter | clinical testing | The c.3271_3272delGA pathogenic mutation, located in coding exon 21 of the RAD50 gene, results from a deletion of two nucleotides at nucleotide positions 3271 to 3272, causing a translational frameshift with a predicted alternate stop codon (p.E1091Tfs*10). 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. |