Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000569474 | SCV000670775 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-01-24 | criteria provided, single submitter | clinical testing | The p.K766* pathogenic mutation (also known as c.2296A>T), located in coding exon 14 of the PMS2 gene, results from an A to T substitution at nucleotide position 2296. This changes the amino acid from a lysine to a stop codon within coding exon 14. 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. |