ClinVar Miner

Submissions for variant NM_001350451.2(RBFOX3):c.164C>G (p.Pro55Arg)

dbSNP: rs2146997386
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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 RCV002012845 SCV002281232 uncertain significance Idiopathic generalized epilepsy 2022-02-02 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 55 of the RBFOX3 protein (p.Pro55Arg). This variant is not present in population databases (gnomAD 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with RBFOX3-related conditions.

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