Submissions for variant NM_001165963.4(SCN1A):c.4512G>C (p.Gln1504His) (rs1559114837)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000703998	SCV000832930	uncertain significance	Early infantile epileptic encephalopathy	2018-08-01	criteria provided, single submitter	clinical testing	This sequence change replaces glutamine with histidine at codon 1504 of the SCN1A protein (p.Gln1504His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SCN1A-related disease. 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: "Possibly Damaging"; Align-GVGD: "Class C15"). This variant identified in the SCN1A gene is located in the cytoplasmic interlinker L3 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.

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