ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.3472G>A (p.Glu1158Lys)

dbSNP: rs1379161622
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000690880 SCV000818609 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2018-05-02 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 1158 of the SPTAN1 protein (p.Glu1158Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SPTAN1-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 tolerated, 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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