Total submissions: 1
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. |