Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000574201 | SCV000667043 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-08-18 | criteria provided, single submitter | clinical testing | The c.1851_1854delAAAG pathogenic mutation, located in coding exon 12 of the RAD50 gene, results from a deletion of 4 nucleotides at positions 1851 to 1854, causing a translational frameshift with a predicted alternate stop codon. 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. |