ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5434T>G (p.Trp1812Gly)

dbSNP: rs121918751
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000193290 SCV000248797 likely pathogenic Seizure 2014-09-03 criteria provided, single submitter clinical testing
GeneDx RCV000478850 SCV000567067 likely pathogenic not provided 2017-03-02 criteria provided, single submitter clinical testing The W1812G missense variant in the SCN1A gene has been reported previously as a denovo variant in an individual with severe myoclonic epilepsy in infancy (SMEI) (Fujiwaraet al., 2003). It was not observed in approximately 6,500 individuals of European andAfrican American ancestry in the NHLBI Exome Sequencing Project, indicating it is not acommon benign variant in these populations. The W1812G variant is a semi-conservativeamino acid substitution, which may impact secondary protein structure as these residuesdiffer in some properties. This substitution occurs at a position that is conserved acrossspecies, and different missense variants in the same residue (W1812S, W1812R) havebeen reported previously as de novo in association with SCN1A-related disorders(SCN1A Variant Database). In silico analysis predicts this variant is probably damaging tothe protein structure/function. Therefore, we consider the W1812G variant to be pathogenic.
UniProtKB/Swiss-Prot RCV000059542 SCV000091074 not provided Severe myoclonic epilepsy in infancy no assertion provided not provided

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.