ClinVar Miner

Submissions for variant NM_006920.6(SCN1A):c.3132C>A (p.Asn1044Lys) (rs797045939)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474614 SCV000548765 uncertain significance Early infantile epileptic encephalopathy 2016-10-26 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 1055 of the SCN1A protein (p.Asn1055Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a SCN1A-related disease. 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. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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