ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3549T>G (p.Tyr1183Ter)

dbSNP: rs1561585641
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004564256 SCV000812421 pathogenic Familial adenomatous polyposis 1 2018-02-01 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. A different truncation (p.Asn1979Thrfs*64) that lies downstream of this variant has been determined to be pathogenic (PMID: 9824584, 20434453, 26681312). 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.Tyr1183*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 1661 amino acids of the APC protein.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.