ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.1738A>G (p.Ile580Val)

gnomAD frequency: 0.00001  dbSNP: rs1259072587
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
Institute of Human Genetics, University of Goettingen RCV001290955 SCV001478887 likely pathogenic Hereditary spastic paraplegia 4 2021-02-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003883601 SCV004702031 likely pathogenic not provided 2024-02-01 criteria provided, single submitter clinical testing SPAST: PM1, PM5, PM2:Supporting, PP2

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.