ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.788T>A (p.Met263Lys) (rs796052491)

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
GeneDx RCV000259298 SCV000330754 pathogenic not provided 2016-09-08 criteria provided, single submitter clinical testing The de novo M263K pathogenic variant in the GABRA1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. However, pathogenic missense variants at this same codon (M263T and M263I) have been reported to occur de novo in individuals with West syndrome (Kodera et al., 2016). The M263K 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 M263K variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret M263K as a 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.