Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation.
Andrea D ThompsonAdam S HelmsAnamika KannanJaime YobNeal K LakdawalaSamuel G WittekindAlexandre C PereiraDaniel L JacobySteven D ColanEuan A AshleySara SaberiJames S WareJodie InglesChristopher SemsarianMichelle MichelsFrancesco MazzarottoIacopo OlivottoCarolyn Y HoSharlene M DayPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2021)
STRUM identifies patients with HCM and a MYBPC3 VUS who may be at higher clinical risk and provides supportive evidence for pathogenicity.