Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001012012 | SCV001172411 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-08-07 | criteria provided, single submitter | clinical testing | The c.1525_1527delACTins25 variant, located in coding exon 11 of the APC gene, results from the deletion of 3 nucleotides and insertion of 25 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.T509Efs*3). 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. |