ClinVar Miner

Submissions for variant NM_018723.4(RBFOX1):c.742G>C (p.Val248Leu)

dbSNP: rs757319815
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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 RCV001347597 SCV001541867 uncertain significance Idiopathic generalized epilepsy 2022-06-13 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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: 1043479). This variant has not been reported in the literature in individuals affected with RBFOX1-related conditions. This variant is present in population databases (rs757319815, gnomAD 0.007%). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 268 of the RBFOX1 protein (p.Val268Leu).

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