ClinVar Miner

Submissions for variant NM_014467.3(SRPX2):c.1028G>A (p.Arg343Gln)

gnomAD frequency: 0.00001  dbSNP: rs1060502322
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000468707 SCV000549242 uncertain significance Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked 2020-12-02 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 (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. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a SRPX2-related disease. This sequence change replaces arginine with glutamine at codon 343 of the SRPX2 protein (p.Arg343Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine.

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