ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.1139G>A (p.Arg380Gln)

gnomAD frequency: 0.00001  dbSNP: rs759791775
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
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris RCV001647221 SCV001519305 likely pathogenic Spastic ataxia 2021-07-12 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001859247 SCV002119669 likely benign Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2024-10-13 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.