ClinVar Miner

Submissions for variant NM_014191.4(SCN8A):c.619A>G (p.Ile207Val)

gnomAD frequency: 0.00003  dbSNP: rs767123396
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189304 SCV000242938 likely benign not provided 2021-03-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 9828131, 25937544)
Invitae RCV001323177 SCV001514081 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2024-01-19 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 207 of the SCN8A protein (p.Ile207Val). This variant is present in population databases (rs767123396, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SCN8A-related conditions. ClinVar contains an entry for this variant (Variation ID: 207145). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SCN8A protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.