ClinVar Miner

Submissions for variant NM_001350451.2(RBFOX3):c.54C>G (p.Ile18Met)

dbSNP: rs2033713868
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001040293 SCV001203856 uncertain significance Idiopathic generalized epilepsy 2019-12-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces isoleucine with methionine at codon 18 of the RBFOX3 protein (p.Ile18Met). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and methionine.

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