Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV003337358 | SCV001405267 | pathogenic | Familial adenomatous polyposis 1 | 2019-09-26 | criteria provided, single submitter | clinical testing | This sequence change results in a premature translational stop signal in the APC gene (p.Glu1552Glyfs*6). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1292 amino acids of the APC protein. For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the APC protein. Other variant(s) that disrupt this region (p.Tyr2645Lysfs*14) have been determined to be pathogenic (PMID: 9824584, 1316610, 27081525, 8381579, 22135120, 15311282, 17293347). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has been observed in individuals with clinical features of familial adenomatous polyposis (PMID: 11145293, 20685668, 19444466, 21643010). This variant is not present in population databases (ExAC no frequency). |
| Mayo Clinic Laboratories, |
RCV001508529 | SCV001714748 | likely pathogenic | not provided | 2020-10-28 | criteria provided, single submitter | clinical testing | PVS1_Strong, PM2, PP4 |
| Myriad Genetics, |
RCV003337358 | SCV004045676 | pathogenic | Familial adenomatous polyposis 1 | 2023-05-11 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |