ClinVar Miner

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

gnomAD frequency: 0.00003  dbSNP: rs745664511
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Total submissions: 3
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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
Invitae RCV001052796 SCV001217022 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2021-03-17 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in individual(s) with SCN1A-related disease (PMID: 29655203). ClinVar contains an entry for this variant (Variation ID: 206748). This variant is present in population databases (rs745664511, ExAC 0.006%). This sequence change replaces isoleucine with threonine at codon 264 of the SCN1A protein (p.Ile264Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine.

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