ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.791T>C (p.Ile264Thr)

gnomAD frequency: 0.00003  dbSNP: rs745664511
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
GeneDx RCV000188847 SCV000242477 uncertain significance not provided 2021-01-11 criteria provided, single submitter clinical testing This substitution is predicted to be within the transmembrane segment S5 of the first homologous domain; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); This variant is associated with the following publications: (PMID: 29655203)
Eurofins Ntd Llc (ga) RCV000188847 SCV000332464 uncertain significance not provided 2015-07-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001052796 SCV001217022 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2024-09-08 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 264 of the SCN1A protein (p.Ile264Thr). This variant is present in population databases (rs745664511, gnomAD 0.01%). This missense change has been observed in individual(s) with SCN1A-related disease (PMID: 29655203). This missense change has been observed in at least one individual who was not affected with SCN1A-related conditions (internal data). ClinVar contains an entry for this variant (Variation ID: 206748). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt SCN1A protein function with a positive 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.