ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.1898G>A (p.Arg633His)

dbSNP: rs1553633823
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499745 SCV000595404 likely pathogenic Intellectual disability, autosomal dominant 9 2016-11-21 criteria provided, single submitter clinical testing
Athena Diagnostics RCV001288231 SCV001475193 uncertain significance not provided 2020-05-22 criteria provided, single submitter clinical testing
GeneDx RCV001288231 SCV005383855 uncertain significance not provided 2023-12-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.