Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003535978 | SCV000947780 | pathogenic | Familial adenomatous polyposis 1 | 2018-07-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Several different truncations downstream of this variant (p.Gln767*, p.Ser932*, p.Ala1050Glufs*6, and p.Gln1062*) have been determined to be pathogenic (PMID: 20685668, 23460355, 15771908, 16134147, 20685668). 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.Asn660Phefs*12). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 2184 amino acids (~75%) of the APC protein. |