Table 1.
Rare variants (MAF <0.002) in the 5 most frequent sarcomere genes, 25 genes associated with or candidate for HCM and 24 genes (same panel excluding TTN).
Table 2.
Novel pathogenic/likely pathogenic variants found in validated sarcomere genes.
Fig 1.
Classification of rare variants in MYBPC3, MYH7, TNNI3, TNNT2 and TPM1 (pooled data from Sanger sequencing and NGS cohorts).
Fig 2.
Classification of the rare variants found in the 25 genes screened in the NGS cohort.
Fig 3.
Classification of the novel variants identified in the NGS cohort.
Fig 4.
Distribution of rare variants according to gene-level supporting evidence, ACMG clinical classification and minor allele frequency filtering.
Table 3.
Novel variants of unknown significance in TTN gene that are deleterious according to multiple in silico predictors.
Table 4.
Detection rate and classification of variants in TTN in patients with hypertrophic cardiomyopathy and patients without structural heart disease.
Fig 5.
NGS results, schematic representation of the breakpoints and precise characterization by Sanger sequencing of (A) the deletion of exon 27 of MYBPC3 (P168, brown sample in the graph), (B) the deletion spanning from exon 4 to exon 12 of MYBPC3 (P259, turquoise sample in the graph), and (C) the well-characterized PLN deletion (blue sample in the graph). (D) NGS results are shown for the non-characterized PLN deletion (orange sample in the graph).