ClinVar Miner

Submissions for variant NM_001350451.2(RBFOX3):c.278C>G (p.Thr93Arg)

gnomAD frequency: 0.00001  dbSNP: rs1339077239
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001977610 SCV002267154 uncertain significance Idiopathic generalized epilepsy 2021-03-12 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with RBFOX3-related conditions. This sequence change replaces threonine with arginine at codon 93 of the RBFOX3 protein (p.Thr93Arg). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and arginine.

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