ClinVar Miner

Submissions for variant NM_018723.4(RBFOX1):c.1089G>C (p.Leu363Phe)

dbSNP: rs776822373
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694824 SCV000823286 uncertain significance Idiopathic generalized epilepsy 2020-06-07 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. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with RBFOX1-related disease. This variant is present in population databases (rs776822373, ExAC 0.001%). This sequence change replaces leucine with phenylalanine at codon 384 of the RBFOX1 protein (p.Leu384Phe). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and phenylalanine.

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