ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.4153C>T (p.Arg1385Trp) (rs770189298)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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.
Invitae RCV000636432 SCV000757871 uncertain significance Early infantile epileptic encephalopathy 2017-12-09 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 1385 of the SPTAN1 protein (p.Arg1385Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs770189298, ExAC 0.006%). 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 disruptive, 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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