ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1940C>T (p.Ala647Val)

dbSNP: rs776380988
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
GeneDx RCV001754082 SCV001987052 likely pathogenic not provided 2022-02-06 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 22571692)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847324 SCV002105864 uncertain significance Hereditary spastic paraplegia 2019-07-12 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.