ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.8340del (p.His2781fs) (rs753958013)

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
GeneDx RCV001008913 SCV001168719 pathogenic not provided 2018-06-13 criteria provided, single submitter clinical testing The c.8340delT variant in the SACS gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.8340delT variant causes a frameshift starting with codon Histidine 2781, changes this amino acid to a Methionine residue, and creates a premature Stop codon at position 4 of the new reading frame, denoted p.H2781MfsX4. This variant is predicted to cause loss of normal protein function through protein truncation. The c.8340delT variant is not observed in large population cohorts (Lek et al., 2016).

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.