ClinVar Miner

Submissions for variant NM_001365951.3(KIF1B):c.1927G>A (p.Glu643Lys)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004059215 SCV002711458 uncertain significance not specified 2024-12-03 criteria provided, single submitter clinical testing The p.E597K variant (also known as c.1789G>A), located in coding exon 18 of the KIF1B gene, results from a G to A substitution at nucleotide position 1789. The glutamic acid at codon 597 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. The evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.
Revvity Omics, Revvity RCV003485782 SCV003814563 uncertain significance Charcot-Marie-Tooth disease type 2A1 2021-01-04 criteria provided, single submitter clinical testing

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.