Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003538606 | SCV001378195 | pathogenic | Familial adenomatous polyposis 1 | 2019-06-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys599*) in the APC gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with familial adenomatous polyposis (FAP) (PMID: 14961559). Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). For these reasons, this variant has been classified as Pathogenic. |