ClinVar Miner

Submissions for variant NM_145893.3(RBFOX1):c.86A>G (p.Gln29Arg)

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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 RCV002909398 SCV003257215 uncertain significance Idiopathic generalized epilepsy 2023-08-24 criteria provided, single submitter clinical testing An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 2048840). This variant has not been reported in the literature in individuals affected with RBFOX1-related conditions. This variant is present in population databases (rs780902521, gnomAD 0.0009%). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 29 of the RBFOX1 protein (p.Gln29Arg).

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