ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4546A>G (p.Ile1516Val)

dbSNP: rs1554085952
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000614367 SCV000731388 uncertain significance not specified 2017-02-25 criteria provided, single submitter clinical testing The p.Ile1516Val variant in APC has not been previously reported in individuals with FAP or other APC-associated cancers and was absent from large population st udies. Computational prediction tools and conservation analysis do not provide s trong support for or against an impact to the protein. In summary, the clinical significance of the p.Ile1516Val variant is uncertain.

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.