To date, this specific MYBPC3 c.1224-52 G>A (IVS13-52 G>A) variant has only been identified in adult patients with hypertrophic cardiomyopathy containing a heterozygous variant or unknown heterozygosity [17,18,19,20,21] (summarized in Table 3). This evidence concerns the gene MYBPC3 and hypertrophic cardiomyopathy.