Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000569347 | SCV000667094 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-07-17 | criteria provided, single submitter | clinical testing | The c.1970-1_1972dupGCCA pathogenic mutation, located in coding exon 13 of the RAD50 gene, results from a duplication of GCCA at nucleotide position 1970-1 to 1972 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. |