ClinVar Miner

Submissions for variant NM_145893.3(RBFOX1):c.32C>A (p.Pro11His)

gnomAD frequency: 0.00018  dbSNP: rs145351963
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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 RCV001050203 SCV001214299 uncertain significance Idiopathic generalized epilepsy 2023-04-24 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with RBFOX1-related conditions. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 846803). This variant is present in population databases (rs145351963, gnomAD 0.07%), and has an allele count higher than expected for a pathogenic variant. This sequence change replaces proline, which is neutral and non-polar, with histidine, which is basic and polar, at codon 11 of the RBFOX1 protein (p.Pro11His). 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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