ClinVar Miner

Submissions for variant NM_002074.5(GNB1):c.239T>A (p.Ile80Asn) (rs752746786)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001540042 SCV001757878 pathogenic not provided 2019-09-16 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 27108799, 25485910)
Institute for Genomic Medicine, Columbia University,Columbia University Medical Center RCV000210280 SCV000266336 pathogenic Global developmental delay; Seizures; Failure to thrive; Feeding difficulties; Focal seizures with impairment of consciousness or awareness; Growth delay; Cortical visual impairment; Limb hypertonia; Infantile muscular hypotonia; Multifocal epileptiform discharges; Muscular hypotonia 2016-02-10 no assertion criteria provided research
OMIM RCV000225195 SCV000282062 pathogenic Mental retardation, autosomal dominant 42 2016-08-08 no assertion criteria provided literature only
OMIM RCV000225283 SCV000282063 pathogenic Acute lymphoid leukemia 2016-08-08 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV000755054 SCV000882870 likely pathogenic Seizures; hypotonia; Neurodevelopmental Disability 2016-05-05 no assertion criteria provided research
GeneReviews RCV000225195 SCV001478317 pathogenic Mental retardation, autosomal dominant 42 2020-02-26 no assertion criteria 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.