ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.73G>A (p.Asp25Asn) (rs786205837)

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 RCV000171059 SCV000223623 pathogenic not provided 2012-02-17 criteria provided, single submitter clinical testing p.Asp25Asn (GAC>AAC): c.73 G>A in the SCN1B gene. The Asp25Asn missense mutation in the SCN1B gene was previously reported as a de novo mutation in a patient who presented with a partial epileptic crisis (Orrico et al., 2009), and the NHLBI ESP Exome Variant Project did not identify Asp25Asn in approximately 5000 individuals of European or African American ethnicity, indicating that it is not a common benign variant in these populations. Asp25Asn results in a non-conservative amino acid substitution, as a negatively charged Aspartic acid residue is replaced by an uncharged Asparagine residue. It alters a highly conserved position in the N-terminal region of the voltage-gated sodium channel protein Navß1, and a mutation at a neighboring codon (Leu28Ile) has been published in association with epilepsy (Klassen et al., 2011). 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.