ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1607C>T (p.Pro536Leu) (rs1440541889)

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 RCV000674260 SCV000799567 uncertain significance Spastic ataxia Charlevoix-Saguenay type 2018-04-25 criteria provided, single submitter clinical testing
GeneDx RCV000523535 SCV000617747 likely pathogenic not provided 2017-07-12 criteria provided, single submitter clinical testing The P536L variant in the SACS gene has been reported previously in association with autosomal recessive spastic ataxia of Charlevoix-Saguenay (Anheim et al., 2008). The P536L variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The P536L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. Additionally, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret P536L as a likely pathogenic variant.

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.