ClinVar Miner

Submissions for variant NM_182978.4(GNAL):c.377-261G>C

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
Institute of Human Genetics, University of Goettingen RCV003653174 SCV004543806 uncertain significance Dystonia 25 2024-02-14 criteria provided, single submitter clinical testing The variant c.145+14G>C (p.?) in exon 2 of the GNAL gene is not found in the gnomAD database and it affects a weakly conserved nucleotide. In silico splice prediction programs suggest no impact splicing impact. The available evidence is currently insufficient to determine the role of this variant in disease. ACMG criteria used for classification: PM2_supp, BP4.

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.