ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.832G>A (p.Val278Met)

gnomAD frequency: 0.00005  dbSNP: rs369908571
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518464 SCV000615398 uncertain significance not provided 2017-12-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764403 SCV000895460 uncertain significance Hereditary spastic paraplegia 4 2018-10-31 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000518464 SCV001713170 uncertain significance not provided 2020-03-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848906 SCV002105645 uncertain significance Hereditary spastic paraplegia 2018-11-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002525084 SCV003565825 likely benign Inborn genetic diseases 2021-08-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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.