Table 2.
Patient-level variant analysis, with the number (n) and percentage (%) of the identified variants in the different genes. Definitive: genes with definitive evidence for HCM association; moderate: genes with moderate evidence for HCM association; P/LP: pathogenic/likely pathogenic variant; VUS: variant of unknown significance; LVH: left ventricular hypertrophy. * in patients without P/LP variants.
| P/LP, n (%) | VUS * n (%) | ||
|---|---|---|---|
| Definitive | MYBPC3 | 55 (61) | 9 (20) |
| MYH7 | 21 (23) | 11 (24) | |
| TNNT2 | 3 (3) | 2 (4) | |
| TNNI3 | 3 (3) | 1 (2) | |
| TPM1 | 1 (1) | 4 (9) | |
| ACTC1 | 1 (1) | 2 (4) | |
| MYL2 | 0 (0) | 3 (7) | |
| MYL3 | 0 (0) | 3 (7) | |
| Moderate | CSRP3 | 0 (0) | 3 (7) |
| TNNC1 | 0 (0) | 1 (2) | |
| JPH2 | 0 (0) | 0 (0) | |
| Syndromic genes with isolated LVH | DES | 1 (1) | 1 (2) |
| FHL1 | 1 (1) | 1 (2) | |
| RAF1 | 2 (2) | 0 (0) | |
| PRKAG2 | 0 (0) | 4 (9) | |
| PTPN11 | 0 (0) | 1 (2) | |
| Other | mitochondrial | 1 (1) | NA |
| TTN | 1 (1) | NA | |
| Total | 90 (100) | 46 (100) |