Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000131673 | SCV000186707 | pathogenic | Hereditary cancer-predisposing syndrome | 2017-09-21 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense) |
| Invitae | RCV000646420 | SCV000768191 | pathogenic | Familial adenomatous polyposis 1 | 2017-10-12 | criteria provided, single submitter | clinical testing | This sequence change results in a premature translational stop signal in the APC gene (p.Gln1406*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 1438 amino acids of the APC protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with familial adenomatous polyposis and colorectal cancer (PMID: 12010888, 20685668, 23085758). This variant is also called p.Gln1407* in the literature. ClinVar contains an entry for this variant (Variation ID: 142519). Multiple truncating variants downstream of this truncation have been reported as pathogenic in individuals with FAP (PMID: 17064931). This suggests that deletion of this region of the APC protein is causative of disease. For these reasons, this variant has been classified as Pathogenic. |