ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.4153C>T (p.Arg1385Trp)

dbSNP: rs770189298
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000636432 SCV000757871 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2022-06-20 criteria provided, single submitter clinical testing 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 530530). This variant has not been reported in the literature in individuals affected with SPTAN1-related conditions. This variant is present in population databases (rs770189298, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1385 of the SPTAN1 protein (p.Arg1385Trp).
GeneDx RCV000839031 SCV000980912 likely benign not provided 2019-03-01 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.
Genome-Nilou Lab RCV001809709 SCV002056571 likely benign Developmental and epileptic encephalopathy, 5 2021-07-15 criteria provided, single submitter clinical testing

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