ClinVar Miner

Submissions for variant NM_018723.4(RBFOX1):c.217T>G (p.Ser73Ala)

gnomAD frequency: 0.00001  dbSNP: rs769785213
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001294656 SCV001483542 uncertain significance Idiopathic generalized epilepsy 2022-12-13 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with RBFOX1-related conditions. This variant is present in population databases (rs769785213, gnomAD 0.003%). This sequence change replaces serine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 93 of the RBFOX1 protein (p.Ser93Ala). ClinVar contains an entry for this variant (Variation ID: 998756). 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) performed at Invitae indicates that this missense variant is not expected to disrupt RBFOX1 protein function.
Ambry Genetics RCV003284141 SCV003984385 uncertain significance Inborn genetic diseases 2023-05-17 criteria provided, single submitter clinical testing The c.277T>G (p.S93A) alteration is located in exon 2 (coding exon 2) of the RBFOX1 gene. This alteration results from a T to G substitution at nucleotide position 277, causing the serine (S) at amino acid position 93 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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