ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) (rs1160357920)

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
Invitae RCV000536906 SCV000629469 pathogenic Spastic paraplegia 2019-06-22 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 1582 of the SACS protein (p.Asp1582Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in combination with another SACS variant in several individuals affected with autosomal recessive spastic ataxia of Charlevoix-Saguenay (PMID: 23250129). ClinVar contains an entry for this variant (Variation ID: 458265). Western blot analysis on lymphoblast protein from an individual who was heterozygous for this missense variant showed a reduction of sacsin protein compared to wild-type protein (PMID: 23250129). For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000578242 SCV000794598 likely pathogenic Charlevoix-Saguenay spastic ataxia 2017-10-04 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000578242 SCV000893322 pathogenic Charlevoix-Saguenay spastic ataxia 2018-10-31 criteria provided, single submitter clinical testing
Institute of Human Genetics, Klinikum rechts der Isar RCV000578242 SCV000680360 likely pathogenic Charlevoix-Saguenay spastic ataxia 2017-11-08 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.