ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.472G>C (p.Glu158Gln)

dbSNP: rs796053090
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189072 SCV000242703 likely pathogenic not provided 2021-01-06 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29655203)
Labcorp Genetics (formerly Invitae), Labcorp RCV000636394 SCV000757833 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2017-09-18 criteria provided, single submitter clinical testing This variant identified in the SCN1A gene is located in the transmembrane spanning D1-S2 region of the resulting protein (PMID: 25348405, 18804930), but it is unclear how this variant impacts the function of this protein. 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). This variant has not been reported in the literature in individuals with a SCN1A-related disease. ClinVar contains an entry for this variant (Variation ID: 206928). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with glutamine at codon 158 of the SCN1A protein (p.Glu158Gln). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and glutamine.
CeGaT Center for Human Genetics Tuebingen RCV000189072 SCV002496552 likely pathogenic not provided 2022-02-01 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252613 SCV001428372 likely pathogenic Severe myoclonic epilepsy in infancy 2019-01-01 no assertion criteria provided clinical testing

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