ClinVar Miner

Submissions for variant NM_001350451.2(RBFOX3):c.145A>G (p.Thr49Ala)

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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 RCV002736348 SCV003010786 uncertain significance Idiopathic generalized epilepsy 2022-05-20 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 49 of the RBFOX3 protein (p.Thr49Ala). This variant has not been reported in the literature in individuals affected with RBFOX3-related conditions. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0").
Ambry Genetics RCV004067875 SCV003658519 uncertain significance not specified 2022-11-01 criteria provided, single submitter clinical testing The c.145A>G (p.T49A) alteration is located in exon 4 (coding exon 1) of the RBFOX3 gene. This alteration results from a A to G substitution at nucleotide position 145, causing the threonine (T) at amino acid position 49 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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