Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001009708 | SCV001169806 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-11-27 | criteria provided, single submitter | clinical testing | The c.1017dupC pathogenic mutation, located in coding exon 7 of the RAD50 gene, results from a duplication of C at nucleotide position 1017, causing a translational frameshift with a predicted alternate stop codon (p.N340Qfs*10). This alteration was identified in a cohort of families with multiple cases of breast and/or ovarian cancer diagnoses undergoing multigene panel testing (Li J et al. J. Med. Genet. 2016 Jan;53:34-42). In addition to the clinical data presented in the literature, 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. |