Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001014368 | SCV001175066 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-05-17 | criteria provided, single submitter | clinical testing | The p.Q695* variant (also known as c.2083C>T), located in coding exon 13 of the RAD50 gene, results from a C to T substitution at nucleotide position 2083. This changes the amino acid from a glutamine to a stop codon within coding exon 13. 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. |