Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV003742617 | SCV000647252 | pathogenic | Familial adenomatous polyposis 1 | 2017-04-11 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This sequence change results in a premature translational stop signal in the last exon of the APC mRNA at codon 874 (p.Ser874*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 1970 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). Even though this variant is located in the last exon of the gene, there are several different truncations downstream of this variant (p.Ser932*, p.Ala1050Glufs*6, p.Gln1062*) that have been determined to be pathogenic (PMID: 20685668, 23460355, 15771908). This suggests that deletion of this region of the APC protein is causative of disease. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000758723 | SCV000887510 | pathogenic | not provided | 2018-05-17 | criteria provided, single submitter | clinical testing | |
| Myriad Genetics, |
RCV003335463 | SCV004045755 | pathogenic | Familial adenomatous polyposis 1 | 2023-05-04 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |