ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.6757dup (p.Ile2253fs)

dbSNP: rs1057516932
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
Counsyl RCV000409610 SCV000486450 likely pathogenic Charlevoix-Saguenay spastic ataxia 2016-06-01 criteria provided, single submitter clinical testing
Invitae RCV003750786 SCV004506374 pathogenic Spastic paraplegia 2024-01-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile2253Asnfs*11) in the SACS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 2327 amino acid(s) of the SACS protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with hereditary spastic paraplegia (PMID: 35499206). ClinVar contains an entry for this variant (Variation ID: 371002). This variant disrupts a region of the SACS protein in which other variant(s) ( p.Asn4549Asp) have been determined to be pathogenic (PMID: 15156359, 21507954). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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.