ClinVar Miner

Submissions for variant NM_001350451.2(RBFOX3):c.676C>A (p.His226Asn)

dbSNP: rs2146312862
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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 RCV001877887 SCV002156568 uncertain significance Idiopathic generalized epilepsy 2021-10-20 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. This variant has not been reported in the literature in individuals affected with RBFOX3-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces histidine with asparagine at codon 226 of the RBFOX3 protein (p.His226Asn). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and asparagine.

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