ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4777G>A (p.Gly1593Arg) (rs886041259)

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 RCV000313784 SCV000329578 pathogenic not provided 2016-08-29 criteria provided, single submitter clinical testing The G1593R pathogenic 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 the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G1593R 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 conserved position in transmembrane segment S3 in the fourth homologous domain of the protein (Shi et al., 2012) and missense variants at nearby codons have been reported in the Human Gene Mutation Database in association with SCN2A-related disorders. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, we interpret the G1593R variant to be 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.