ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.5151dup (p.Ser1718fs) (rs754439135)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517322 SCV000614959 pathogenic not provided 2015-11-23 criteria provided, single submitter clinical testing
Invitae RCV001035595 SCV001198928 pathogenic Spastic paraplegia 2020-03-29 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SACS gene (p.Ser1718Ilefs*20). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 2862 amino acids of the SACS protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in individuals and families affected with SACS-related conditions (PMID: 24108619, 28658401, 23123642, 29538656). ClinVar contains an entry for this variant (Variation ID: 448205). For these reasons, this variant has been classified as Pathogenic.
Paris Brain Institute,Inserm - ICM RCV001276945 SCV001451181 pathogenic Charlevoix-Saguenay spastic ataxia criteria provided, single submitter clinical testing
Natera, Inc. RCV001276945 SCV001463612 pathogenic Charlevoix-Saguenay spastic ataxia 2020-09-16 no assertion criteria provided 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.