Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003534581 | SCV000817233 | pathogenic | Familial adenomatous polyposis 1 | 2018-04-10 | criteria provided, single submitter | clinical testing | This sequence change results in a premature translational stop signal in the APC gene (p.Thr1261Ilefs*4). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1,583 amino acids of the APC protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with suspected familial adenomatous polyposis (PMID: 23159591). A different truncation downstream of this variant (p.Glu1309Aspfs*4) has been determined to be pathogenic (PMID: 20223039, 1316610, 23159591, 24664542). This suggests that deletion of this region of the APC protein is causative of disease. For these reasons, this variant has been classified as Pathogenic. |