ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.8388_8402del (p.Asp2796_Gln2801delinsGlu)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000824461 SCV000965360 uncertain significance Spastic paraplegia 2018-09-11 criteria provided, single submitter clinical testing This variant, c.8388_8402del, results in the deletion of 6 amino acids of the SACS protein, combined with the insertion of 1 amino acid (p.Asp2796_Gln2801delinsGlu), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SACS-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. The observation of one or more variants at this codon (p.Asp2796_Gln2801delinsGlu and p.Gln2801del) in affected individuals suggests that this may be a clinically significant residue (PMID: 18465152). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.