Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003534585 | SCV000817782 | pathogenic | Familial adenomatous polyposis 1 | 2018-02-07 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. A different truncation (p.1406*) that lies downstream of this variant has been determined to be pathogenic (PMID: 12010888, 20685668, 23085758). This suggests that deletion of this region of the APC protein is causative of disease. This variant has not been reported in the literature in individuals with APC-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the APC gene (p.Val1390Serfs*25). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt 25 amino acids and delete the last 1430 amino acids of the APC protein. |