ClinVar Miner

Submissions for variant NM_001098511.3(KIF2A):c.263T>C (p.Val88Ala)

gnomAD frequency: 0.00001  dbSNP: rs774962082
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 RCV001954166 SCV002237547 uncertain significance not provided 2021-07-29 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals affected with KIF2A-related conditions. This variant is present in population databases (rs774962082, ExAC 0.002%). This sequence change replaces valine with alanine at codon 88 of the KIF2A protein (p.Val88Ala). The valine residue is moderately conserved and there is a small physicochemical difference between valine and alanine.

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.