ClinVar Miner

Submissions for variant NM_145893.3(RBFOX1):c.46A>G (p.Met16Val)

dbSNP: rs779418628
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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 RCV000537804 SCV000632068 uncertain significance Idiopathic generalized epilepsy 2022-04-11 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 460032). This variant has not been reported in the literature in individuals affected with RBFOX1-related conditions. This variant is present in population databases (rs779418628, gnomAD 0.003%). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 16 of the RBFOX1 protein (p.Met16Val). 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. 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.
Ambry Genetics RCV002527709 SCV003686450 uncertain significance Inborn genetic diseases 2024-11-26 criteria provided, single submitter clinical testing The c.46A>G (p.M16V) alteration is located in exon 1 (coding exon 1) of the RBFOX1 gene. This alteration results from a A to G substitution at nucleotide position 46, causing the methionine (M) at amino acid position 16 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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