ClinVar Miner

Submissions for variant NM_018723.4(RBFOX1):c.629A>G (p.Lys210Arg)

dbSNP: rs2095316869
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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 RCV001226638 SCV001398959 uncertain significance Idiopathic generalized epilepsy 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 230 of the RBFOX1 protein (p.Lys230Arg). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on RBFOX1 protein function. ClinVar contains an entry for this variant (Variation ID: 954218). This variant has not been reported in the literature in individuals affected with RBFOX1-related conditions. This variant is not present in population databases (gnomAD no frequency).

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