Table 1.
Summary of the ARVC pathogenic and unknown variants observed in the gnomAD data per gene.
| Gene | Transcript ID | AAc | N of variants on the ARVC mutation database | Total N of variants in gnomAD | N of variants per AAc | N of ARVC-associated variants in gnomAD | ||
|---|---|---|---|---|---|---|---|---|
| Pathogenic | Unknown variants | Pathogenic (%) | Unknown variants (%) | |||||
| DSC2 | ENST00000280904.10—NM_024422 | 901 | 42 | 35 | 1374 | 1.53 | 19 (45) | 20 (57) |
| DSG2 | ENST00000261590.12—NM_001943 | 1118 | 50 | 60 | 1516 | 1.36 | 26 (52) | 40 (67) |
| DSP | ENST00000379802.7—NM_004415 | 2871 | 86 | 96 | 3052 | 1.06 | 21 (24) | 54 (56) |
| JUP | ENST00000393931.7—NM_002230 | 745 | 15 | 14 | 1127 | 1.51 | 10 (67) | 8 (57) |
| PKP2 | ENST00000070846.10—NM_004572 | 837 | 171 | 61 | 1338 | 1.6 | 41 (24) | 30 (49) |
| TOTAL | 364 | 266 | 8407 | 117 (32) | 152 (57) | |||
Of the previously reported 364 pathogenic variants 32% were present in gnomAD. The proportion of unknown ARVC variants was higher (49%)
AAc amino acid count