ClinVar Miner

Submissions for variant NM_014336.5(AIPL1):c.746T>C (p.Val249Ala)

dbSNP: rs760491360
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 RCV001066284 SCV001231291 uncertain significance Leber congenital amaurosis 4 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 249 of the AIPL1 protein (p.Val249Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine. This variant is present in population databases (rs760491360, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with AIPL1-related conditions. 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. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. 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.