Table 2.
Putatively Damaging Variants in Subjects With AM
| Registry | Case | Age (y) | Sex | Gene | cDNA Change | Function | ClinVar | gnomAD AF | hg38 Coordinates |
|---|---|---|---|---|---|---|---|---|---|
| AM1 | |||||||||
| AM1-1 | 0.6 | F | PRDM16 | c.420delG | Frameshift deletion | – | – | 3244118 | |
| AM1-1 | 0.6 | F | DSP | c.3697dupA | Frameshift insertion | – | – | 7579886 | |
| AM1-1 | 0.6 | F | DNM2 | c.1347dupC | Frameshift insertion | – | – | 10798496 | |
| AM1-1 | 0.6 | F | DMD | c.823dupT | Frameshift insertion | – | – | 31180428 | |
| AM1-2 | 13 | F | TTN | c.76806dupA | Frameshift insertion | – | – | 178533189 | |
| AM1-2 | 13 | F | TTN | c.52867_52868insCA | Frameshift insertion | – | – | 178566645 | |
| AM1-3 | 42 | F | RYR1 | c.G1589A | Nonsynonymous SNV | P/VUS | 5.3 · 10-5 | 38455463 | |
| AM1-4 | 60 | M | DYSF | c.4152dupC | Frameshift insertion | P | 2.8 · 10-5 | 71612666 | |
| AM1-5 | 62 | M | TTN | c.C35680T | Stopgain | – | – | 178589426 | |
| AM2 | |||||||||
| AM2-1 | 19 | F | DSP | c.C1234T | Stopgain | – | – | 7567874 | |
| AM2-2 | 23 | M | PKP2 | c.1771delC | Frameshift deletion | P | – | 32822534 | |
| AM2-3 | 31 | M | DSP | c.C5851T | Stopgain | P | – | 7583113 | |
| AM2-4 | 40 | M | SGCG | c.T581C | Nonsynonymous SNV | LP/P | 1.5 · 10-5 | 23320639 | |
| AM2-5 | 44 | F | MYH7 | c.C2377T | Stopgain | VUS | – | 23425328 | |
| AM2-6 | 48 | M | TTN | c.51250delA | Frameshift deletion | – | – | 178568262 | |
| AM2-7 | 51 | M | FLNC | c.7870delA | Frameshift deletion | – | – | 128858195 | |
| AM2-8 | 54 | F | DYSF | c.C760T | Nonsynonymous SNV | LP/P | 0.0001 | 71515716 | |
| AM3 | |||||||||
| AM3-1 | 34 | M | TTN | c.C22552T | Stopgain | – | – | 178614226 | |
| AM3-2 | 37 | M | TTN | c.50536delT | Frameshift deletion | – | – | 178568976 | |
| AM3-3 | 39 | M | TTN | c.38004delA | Frameshift deletion | – | – | 178585120 | |
| AM3-4 | 46 | M | TTN | c.38004delA | Frameshift deletion | – | – | 178585120 | |
| AM3-5 | 57 | F | TRDN | c.991+2T>A | Splicing | – | – | 123438942 | |
| AM3-6 | 62 | M | TNNT1 | c.G73T | Stopgain | – | 0 | 55146681 |
Dashes indicate that the information is not listed in the database. NM numbers for cDNA variants are as follows: PRDM, NM_022114; DSP, NM_004415; DNM2, NM_001005360; DMD, NM_004015; TTN, NM_133437; RYR1, NM_000540; PLEC, NM_201378; DYSF, NM_001130976; PKP2, NM_001005242; SGCG, NM_000231; MYH7, NM_000257; FLNC, NM_001127487; DYSF, NM_001130455; TRDN, NM_006073; TNNT1, NM_001126133.
AF = allele frequency; AM = acute myocarditis; cDNA = complementary DNA; gnomAD = genome Aggregation Database; LP = likely pathogenic; NM = neutrophil migration; SNV = single nucleotide variation; P = pathogenic; VUS = variant of uncertain significance.