ClinVar Miner

Submissions for variant NM_000171.4(GLRA1):c.869C>T (p.Thr290Ile)

dbSNP: rs1064795411
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 RCV000482253 SCV000571187 likely pathogenic not provided 2018-11-20 criteria provided, single submitter clinical testing The T290I variant in the GLRA1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The T290I 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 T290I 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. The T290I variant is a strong candidate for 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.