Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003538518 | SCV000768264 | pathogenic | Familial adenomatous polyposis 1 | 2017-09-23 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). 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.Asn1455Alafs*19). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1389 amino acids (49%) of the APC protein. |