Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001013823 | SCV001174456 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-08-28 | criteria provided, single submitter | clinical testing | The c.1953delA pathogenic mutation, located in coding exon 12 of the RAD50 gene, results from a deletion of one nucleotide at nucleotide position 1953, causing a translational frameshift with a predicted alternate stop codon (p.K651Nfs*23). 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. |