ClinVar Miner

Submissions for variant NM_001350451.2(RBFOX3):c.542AGA[1] (p.Lys182del)

dbSNP: rs1568129070
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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 RCV002020894 SCV002304779 uncertain significance Idiopathic generalized epilepsy 2021-08-25 criteria provided, single submitter clinical testing This variant, c.545_547del, results in the deletion of 1 amino acid(s) of the RBFOX3 protein (p.Lys182del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with RBFOX3-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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