ClinVar Miner

Submissions for variant NM_000806.5(GABRA1):c.851T>C (p.Val284Ala) (rs794727962)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000180531 SCV000232993 uncertain significance not provided 2014-11-14 criteria provided, single submitter clinical testing
GeneDx RCV000180531 SCV000322020 likely pathogenic not provided 2016-06-30 criteria provided, single submitter clinical testing The V284A variant in the GABRA1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The V284A variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The V284A variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, we interpret V284A as a likely pathogenic variant.

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.