ClinVar

Description

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. Experimental studies have shown that this missense change affects SNRNP200 function (PMID: 33553197). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SNRNP200 protein function. ClinVar contains an entry for this variant (Variation ID: 935525). This missense change has been observed in individuals with retinitis pigmentosa (PMID: 33553197; Invitae). This variant is present in population databases (rs150442718, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 2030 of the SNRNP200 protein (p.Arg2030Cys).