ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.2450T>C (p.Ile817Thr)

gnomAD frequency: 0.00001  dbSNP: rs1060503490
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474102 SCV000553138 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2016-05-26 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a SPTAN1-related disease. This sequence change replaces isoleucine with threonine at codon 817 of the SPTAN1 protein (p.Ile817Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine.

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