ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.134G>A (p.Arg45Gln)

gnomAD frequency: 0.00002  dbSNP: rs760552878
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438696 SCV000528147 likely benign not specified 2016-05-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001861568 SCV002236579 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2022-11-08 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 45 of the SPTAN1 protein (p.Arg45Gln). This variant is present in population databases (rs760552878, gnomAD 0.003%). 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. 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. ClinVar contains an entry for this variant (Variation ID: 386469). This variant has not been reported in the literature in individuals affected with SPTAN1-related conditions.

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