ClinVar Miner

Submissions for variant NM_001350451.2(RBFOX3):c.556C>A (p.Pro186Thr)

dbSNP: rs372072435
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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 RCV000470915 SCV000552219 uncertain significance Idiopathic generalized epilepsy 2016-06-01 criteria provided, single submitter clinical testing 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 disruptive, but these predictions have not been confirmed by published functional studies. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a RBFOX3-related disease. This sequence change replaces proline with threonine at codon 186 of the RBFOX3 protein (p.Pro186Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine. Comment

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