ClinVar Miner

Submissions for variant NM_182978.4(GNAL):c.964C>T (p.Arg322Ter)

dbSNP: rs1252185897
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001091985 SCV001248307 pathogenic not provided 2017-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005092208 SCV005838495 pathogenic Dystonic disorder 2024-07-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg245*) in the GNAL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GNAL are known to be pathogenic (PMID: 23222958, 27123488). This variant is present in population databases (no rsID available, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with cervical dystonia (PMID: 23449625, 24408567). ClinVar contains an entry for this variant (Variation ID: 626333). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000768577 SCV000899283 not provided Dystonia 25 no assertion provided literature only

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.