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 are conflicting or provide insufficient evidence to determine the effect of this variant on SRP72 function (PMID: 22541560). 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 SRP72 protein function. ClinVar contains an entry for this variant (Variation ID: 31660). This missense change has been observed in individual(s) with clinical features of SRP72-related conditions (PMID: 22541560). This variant is present in population databases (rs387907189, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 207 of the SRP72 protein (p.Arg207His).