ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.94C>T (p.Gln32Ter) (rs769743354)

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
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000209844 SCV000265592 uncertain significance Epileptic encephalopathy, early infantile, 19 2015-12-10 criteria provided, single submitter research
GeneDx RCV000484867 SCV000565025 likely pathogenic not provided 2014-08-06 criteria provided, single submitter clinical testing A novel Q32X variant that is likely pathogenic has been identified in the GABRA1 gene. The Q32X variant has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in an external variant database, indicating it is not a common benign variant in these populations. The Q32X variant in the GABRA1 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. However, only one mutation causing a premature stop codon has been reported in the Human Gene Mutation Database (Stenson et al., 2009). Therefore, this is a strong candidate for a pathogenic variant, however the possibility that it is a benign variant cannot be excluded.
Invitae RCV001390803 SCV001592651 pathogenic Idiopathic generalized epilepsy; Epilepsy, juvenile myoclonic 5; Epilepsy, childhood absence 4 2020-09-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln32*) in the GABRA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with GABRA1-related conditions (PMID: 28554332, 29655203). ClinVar contains an entry for this variant (Variation ID: 224145). Loss-of-function variants in GABRA1 are known to be pathogenic (PMID: 16718694). For these reasons, this variant has been classified as Pathogenic.

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.