Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001013282 | SCV001173850 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-11-08 | criteria provided, single submitter | clinical testing | The p.E605* pathogenic mutation (also known as c.1813G>T), located in coding exon 12 of the RAD50 gene, results from a G to T substitution at nucleotide position 1813. This changes the amino acid from a glutamic acid to a stop codon within coding exon 12. 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. |