Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000576069 | SCV000669299 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-09-08 | criteria provided, single submitter | clinical testing | The c.693_694insCTCC pathogenic mutation, located in coding exon 5 of the CHEK2 gene, results from an insertion of 4 nucleotides at position 693, causing a translational frameshift with a predicted alternate stop codon (p.G232Lfs*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. |