ClinVar Miner

Submissions for variant NM_006920.6(SCN1A):c.4376G>A (p.Gly1459Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000803849 SCV000943736 uncertain significance Early infantile epileptic encephalopathy 2018-11-30 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 1470 of the SCN1A protein (p.Gly1470Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. 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 conditions. 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. 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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