SEQUENCE VARIANTS IN TITIN CAUSING SPLICING DEFECTS AND CARDIOMYOPATHY: INSIGHTS FOR GENE BASED DIAGNOSIS AND NORMAL PHYSIOLOGY

Heterozygous truncating variants in titin (TTNtv) are the major genetic cause of dilated cardiomyopathy (DCM). Though variants which disrupt essential splicing dinucleotides (GT/AG) are readily recognized as TTNtv, the effects of other nearby sequence variations on splicing is uncertain. We