ClinVar Miner

Submissions for variant NM_018723.4(RBFOX1):c.1006G>C (p.Val336Leu)

gnomAD frequency: 0.00001  dbSNP: rs766496349
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634970 SCV000756348 uncertain significance Idiopathic generalized epilepsy 2022-08-23 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. 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. ClinVar contains an entry for this variant (Variation ID: 529514). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 357 of the RBFOX1 protein (p.Val357Leu). This variant is present in population databases (rs766496349, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with RBFOX1-related conditions.

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