ClinVar Miner

Submissions for variant NM_018723.4(RBFOX1):c.52C>G (p.Pro18Ala)

gnomAD frequency: 0.00010  dbSNP: rs149974858
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634975 SCV000756353 uncertain significance Idiopathic generalized epilepsy 2024-01-12 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 38 of the RBFOX1 protein (p.Pro38Ala). This variant is present in population databases (rs149974858, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with RBFOX1-related conditions. ClinVar contains an entry for this variant (Variation ID: 529519). 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) performed at Invitae indicates that this missense variant is not expected to disrupt RBFOX1 protein function with a negative predictive value of 80%. 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.
Fulgent Genetics, Fulgent Genetics RCV000634975 SCV000895033 uncertain significance Idiopathic generalized epilepsy 2018-10-31 criteria provided, single submitter clinical testing

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