Level of evidence for the pathogenicity of the distinct variants. (‘Others’—novel missense variants not predicted to be pathogenic in silico)
| Number of patients (%) | |
|---|---|
| Sarcomere genes (MYH7, MYBPC3, TNNT2, TNNI3, MYL2, MYL3, ACTC1, TPM1) | 110 (49.3) |
| Published mutation | 71 (31.8) |
| Loss of function/in silico predicted to be damaging | 35 (15.7) |
| Others | 4 (1.8) |
| Other sarcomere and sarcomere-associated genes (titin excluded): MYH6, VCL, CSRP3, DES, LDB3, LMNA, RBM20, TCAP, PLN, PDLIM3 | 33 (14.8) |
| Published mutation | 4 (1.8) |
| Loss of function/in silico predicted to be damaging | 18 (8.1) |
| Others | 11 (4.9) |
| Total | 143 (64.1) |