Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003538521 | SCV000768271 | pathogenic | Familial adenomatous polyposis 1 | 2017-09-17 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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.His806Thrfs*2). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 2037 amino acids of the APC protein. While this particular variant has not been reported in the literature, loss-of-function variants in APC are known to be pathogenic (PMID: 20685668, 17963004). In addition, multiple truncating variants downstream of this variant have been reported as pathogenic in individuals with familial adenomatous polyposis (PMID: 17064931, 23159591, Invitae). |