ClinVar Miner

Submissions for variant NM_018723.4(RBFOX1):c.490G>T (p.Glu164Ter)

dbSNP: rs2094642630
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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 RCV001920349 SCV002182707 uncertain significance Idiopathic generalized epilepsy 2022-06-13 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu184*) in the RBFOX1 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in RBFOX1 cause disease. This variant has not been reported in the literature in individuals affected with RBFOX1-related conditions. 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.

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