Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000168194 | SCV002243634 | pathogenic | Familial adenomatous polyposis 1 | 2014-11-17 | criteria provided, single submitter | clinical testing | For these reasons, this sequence change has been classified as Pathogenic. While this particular sequence change has not been reported in the literature, truncating sequence changes in APC are known to be pathogenic (PMID: 17963004, 20685668).This particular truncation has been reported  in an individual affected with  familial adenomatous polyposis (PMID: 10094547) This sequence change creates a premature translational stop signal at codon 1392 ((p.Ser1392*). It is expected to result in an absent or disrupted protein product. |