ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.6371G>A (p.Arg2124His)

gnomAD frequency: 0.00001  dbSNP: rs763928650
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000544319 SCV000633792 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2017-06-19 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 2124 of the SPTAN1 protein (p.Arg2124His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs763928650, ExAC 0.003%). This variant has not been reported in the literature in individuals with a 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, this variant has uncertain impact on SPTAN1 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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