ClinVar Miner

Submissions for variant NM_018723.4(RBFOX1):c.955G>T (p.Ala319Ser)

dbSNP: rs199644500
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000471744 SCV000550594 uncertain significance Idiopathic generalized epilepsy 2020-01-11 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a RBFOX1-related disease. This sequence change replaces alanine with serine at codon 340 of the RBFOX1 protein (p.Ala340Ser). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and serine.

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