Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001018334 | SCV001179559 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-11-07 | criteria provided, single submitter | clinical testing | The p.Q1019* pathogenic mutation (also known as c.3055C>T), located in coding exon 20 of the RAD50 gene, results from a C to T substitution at nucleotide position 3055. This changes the amino acid from a glutamine to a stop codon within coding exon 20. 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. |