ClinVar Miner

Submissions for variant NM_001350451.2(RBFOX3):c.688C>T (p.Arg230Trp)

gnomAD frequency: 0.00001  dbSNP: rs1170085775
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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 RCV001229861 SCV001402321 uncertain significance Idiopathic generalized epilepsy 2021-11-03 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 230 of the RBFOX3 protein (p.Arg230Trp). This variant has not been reported in the literature in individuals affected with RBFOX3-related conditions. ClinVar contains an entry for this variant (Variation ID: 956959). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003117857 SCV003800235 uncertain significance not provided 2022-03-10 criteria provided, single submitter clinical testing

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