ClinVar Miner

Submissions for variant NM_001350451.2(RBFOX3):c.686GCCGGG[3] (p.Arg232_Ala233insGlyArg)

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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 RCV003527454 SCV004309225 uncertain significance Idiopathic generalized epilepsy 2022-12-07 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. This variant has not been reported in the literature in individuals affected with RBFOX3-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.02%). This variant, c.692_697dup, results in the insertion of 2 amino acid(s) of the RBFOX3 protein (p.Gly231_Arg232dup), but otherwise preserves the integrity of the reading frame.

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