ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5068A>G (p.Ile1690Val) (rs201142277)

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
Invitae RCV000472408 SCV000552703 uncertain significance Familial adenomatous polyposis 1 2016-09-04 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 1690 of the APC protein (p.Ile1690Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. The frequency data for this variant (rs201142277) in the population databases is unreliable, as metrics indicate poor quality at this position in the ExAC database. This variant has not been reported in the literature in an individual with an APC-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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.