RET Gene Varianta PolyPhen SIFT MutPred Curated Outcome Predictionb Predictionc Predictiond G533C (pathogenic) probably damaging affects function Not available C609S (uncertain) probably damaging affects function deleterious (0.90) C611S (pathogenic) probably damaging affects function deleterious (0.90) C618G (pathogenic) probably damaging tolerated deleterious (0.88) C620R (pathogenic) benign tolerated deleterious (0.75) C630R (pathogenic) probably damaging tolerated deleterious (0.70) D631Y (pathogenic) probably damaging affects function deleterious (0.69) C634L (pathogenic) probably damaging tolerated deleterious (0.69) S649L (pathogenic) probably damaging tolerated deleterious (0.66) G691S (benign) benign tolerated benign(0.20) aCurated RET variants from http://www.arup.utah.edu/database/MEN2/MEN2_ welcome.php bAnalyzed with default settings at http://genetics.bwh.harvard.edu/pph cAnalyzed with default settings at http://sift.jcvi.org dAnalyzed with default settings at http://mutdb.org/mutpred

Table 4: Comparison of mutation prediction for selected RET mutations using PolyPhen, SIFT and MutPred.