ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.1271T>C (p.Val424Ala) (rs796053181)

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 RCV000189207 SCV000242839 pathogenic not provided 2012-11-20 criteria provided, single submitter clinical testing p.Val424Ala (GTG>GCG): c.1271 T>C in exon 10 of the SCN2A gene (NM_021007.2). The Val424Ala missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The NHLBI ESP Exome Variant Project has not identified Val424Ala in approximately 6,500 individuals of European or African American ethnicity, indicating that it is not a common benign variant in these populations. The amino acid substitution is conservative, as Valine and Alanine are both uncharged, non-polar amino acids. However, it alters a highly conserved position in the S6 segment of the first transmembrane domain of the protein, and multiple in silico algorithms predict it may be damaging to protein structure/function. This variant has been observed de novo without verified parentage. The variant is found in EPILEPSY panel(s).

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.