Table 5.
Total number of LP/P variants (N) identified from tier 1 and tier 2 analysis each gene and clinical diagnosis
| Diagnosis | Gene | Tier 1 LP/P Variants, n | Tier 2 LP/P Variants, n |
|---|---|---|---|
| HCM | MYBPC3 | 59 | 2 |
| MYH7 | 17 | ||
| ALPK3 | 1 | ||
| TNNI3 | 3 | ||
| CACNA1C | 2 | ||
| PTPN11 | 2 | ||
| JPH2 | 1 | ||
| KCNQ1 | 0 | ||
| LAMP2 | 1 | ||
| PRKAG2 | 1 | ||
| TNNT2 | 1 | ||
| TPM1 | 1 | ||
| DCM | TTNa | 29 | 1 |
| LMNA | 4 | ||
| BAG3 | 3 | ||
| DMD | 2 | ||
| DSP | 2 | ||
| FLNC | 2 | ||
| MYBPC3 | 2 | ||
| MYH7 | 2 | ||
| RBM20 | 2 | ||
| TNNT2 | 2 | ||
| PKP2 | 1 | 1 | |
| DES | 1 | ||
| SCN5A | 1 | ||
| ARVC | PKP2 | 9 | |
| DSP | 5 | ||
| DSG2 | 4 | ||
| BMPR2 | 1 | ||
| FLCN | 1 | ||
| LVNC | MYH7 | 2 | |
| MYBPC3 | 1 | ||
| TAZ | 1 | ||
| TBX20 | 1 | ||
| RYR2 | 1 | ||
| TTN | 2 | ||
| DSP | 1 | ||
| MT-TI | 1 | ||
| PRDM16 | 1 | ||
| RBM20 | 1 | ||
| TBX20 | 1 | ||
| RCM | MYBPC3 | 1 | |
| MYH7 | 1 | ||
| TNNI3 | 1 | ||
| BrS | SCN5A | 3 | |
| LQTS | KCNQ1 | 28 | |
| KCNH2 | 10 | ||
| SCN5A | 1 | ||
| TTN | 1 | ||
| CPVT | RYR2 | 4 | |
| CASQ2 | 1 | ||
| TECRL | 2 | ||
| MYBPC3 | 1 | ||
| Familial CHD | JAG1 | 2 | |
| CDK13 | 1 | ||
| ELN | 1 | ||
| FLT4 | 1 | ||
| GATA4 | 1 | ||
| NKX2 | 1 | ||
| NODAL | 1 | ||
| NOTCH1 | 1 | ||
| PTPN11 | 1 | ||
| DNAH11 | 1 | ||
| PKD2 | 1 | ||
| CHD + ECA | CHD7 | 2 | |
| NFE2L2 | 1 | ||
| SETD5 | 1 |
ARVC, arrhythmogenic right ventricular cardiomyopathy; BrS, Brugada syndrome; CHD, congenital heart disease; CPVT, catecholaminergic polymorphic ventricular tachycardia; DCM, dilated cardiomyopathy; ECA, extra cardiac anomalies; HCM, hypertrophic cardiomyopathy; LP, likely pathogenic; LQTS, long QT syndrome; LVNC, left ventricular noncompaction; P, pathogenic; RCM, restrictive cardiomyopathy; VUS, variants of uncertain significance.
a
Numbers shown includes the TTNtv VUS that were reclassified as LP following reanalysis after Flagship completion.