ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1100C>T (p.Thr367Ile)

dbSNP: rs1698011519
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001222801 SCV001394918 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2019-08-21 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SCN1A-related conditions. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with isoleucine at codon 367 of the SCN1A protein (p.Thr367Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine.
Institute of Human Genetics, University Hospital Muenster RCV004584427 SCV002577754 uncertain significance See cases 2021-12-16 criteria provided, single submitter clinical testing ACMG categories: PM2,PP3
Diagnostic Laboratory, Strasbourg University Hospital RCV002275319 SCV002562856 uncertain significance Seizure no assertion criteria provided clinical testing

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