Research Article
Reevaluating the Mutation Classification in Genetic Studies of Bradycardia Using ACMG/AMP Variant Classification Framework
Table 3
Evaluate all sequence variants using InterVar database.
| Chr | Position | Ref | Alt | Gene | Criterion | Clinical manifest | Authors |
| 12 | 21882785 | G | A | ABCC9 | Likely pathogenic | PCCD; SSS | Celestino-Soper et al. [18] | 1 | 236731300 | T | C | ACTN2 | Likely pathogenic | AVB; AF | Girolami et al. [19] | 2 | 21006288 | A | T | APOB | Uncertain significance | PCCD; SSS | Celestino-Soper et al. [18] | 12 | 2567685 | G | A | CACNA1C | Likely pathogenic | SSS | Zhu et al. [20] | 12 | 2567694 | G | A | CACNA1C | Likely pathogenic | SSS | Zhu et al. [20] | 12 | 2448997 | C | T | CACNA1C | Likely pathogenic | PCCD | Gao et al. [21] | 12 | 2504538 | G | A | CACNA1C | Pathogenic | AVB; Timothy syndrome 1 (TS1) | Sepp et al. [49] | 1 | 86447519 | G | T | CLCA2 | Uncertain significance | AVB; PCCD | Mao et al. [50] Tan et al. [51] | 2 | 219425671 | C | A | DES | Uncertain significance | AVB; AF | Jurcu et al. [52] | 2 | 219418500 | C | T | DES | Pathogenic | AVB | van Tintelen et al. [22] | 18 | 31524751 | A | G | DSG2 | Benign/likely benign | AVB | Castellana et al. [53] | 17 | 44805594 | G | T | GJC1 | Uncertain significance | AVB | Seki et al. [54] | X | 101398869 | A | C | GLA | Uncertain significance | HCM; AVB | Csanyi et al. [55] | 7 | 100676751 | G | T | GNB2 | Uncertain significance | SSS; AVB | Stallmeyer et al. [56] | 15 | 73329719 | C | T | HCN4 | Pathogenic/likely pathogenic | SSS; LVNC | Milano et al. [28] | 15 | 73343416 | A | T | HCN4 | Uncertain significance | SSS; AF; LVNC | Ishikawa et al. [31] | 15 | 73329719 | C | T | HCN4 | Pathogenic/likely pathogenic | SSS | Ishikawa et al. [31] | 15 | 73323745 | G | C | HCN4 | Likely benign | SSS | Schweizer et al. [29] | 15 | 73322804 | C | A | HCN4 | Uncertain significance | AVB | Zhou et al. [57] | 20 | 44160305 | A | T | JPH2 | Uncertain significance | HCM; AVB | Vanninen et al. [58] | 7 | 150951555 | C | A | KCNH2 | Pathogenic | AVB; LQT | Priest et al. [35] | 2 | 155555534 | A | C | KCNJ3 | Uncertain significance | SSS; AF | Yamada et al. [59] | 11 | 2549192 | G | A | KCNQ1 | Pathogenic/likely pathogenic | SSS; AF | Righi et al. [34] | X | 119589315 | C | T | LAMP2 | Pathogenic | AVB; WPW; Danon disease | Miani et al. [39] | 10 | 88446830 | G | A | LDB3 | Benign | PCCD; SSS | Celestino-Soper et al. [18] | 1 | 156104224 | C | T | LMNA | Pathogenic | AVB; VT; SCD | Glocklhofer et al. [36] | 1 | 156104281 | A | G | LMNA | Uncertain significance | AVB; HF | Petillo et al. [60] | 1 | 156106186 | G | C | LMNA | Uncertain significance | AVB; HF | Petillo et al. [60] | 1 | 156084953 | G | A | LMNA | Pathogenic | AVB; DCM | Wu et al. [61] | 1 | 156104629 | C | T | LMNA | Pathogenic | AVB; VT; SCD | Saga et al. [62] | 1 | 156104755 | T | C | LMNA | Pathogenic/likely pathogenic | AVB; muscular dystrophy; cardiomyopathy | Romeike et al. [63] | 1 | 156084787 | C | T | LMNA | Likely benign | AVB; AF | Saj et al. [37] | 1 | 156108298 | C | T | LMNA | Likely pathogenic | AVB; HCM | Francisco et al. [64] | X | 153297719 | G | A | MECP2 | Pathogenic/likely pathogenic | SSS | Shioda et al. [38] | 11 | 47354497 | G | A | MYBPC3 | Uncertain significance | AVB | Kouakam et al. [65] | 5 | 172660006 | G | A | NKX2-5 | Uncertain significance | AVB; AF; DCM | Yuan et al. [66] | 5 | 172661762 | C | A | NKX2-5 | Uncertain significance | AVB; congenital cardiovascular diseases (CCVD) | Pabst et al. [67] | 5 | 172660110 | G | C | NKX2-5 | Uncertain significance | AVB; ASD | Xie et al. [68] | 1 | 11907171 | C | T | NPPA | Pathogenic | SSS; atrial dilatation (AD) | Disertori et al. [69] | X | 101096287 | G | A | NXF5 | Uncertain significance | AVB; focal segmental glomerulosclerosis (FSGS) | Esposito et al. [70] | 20 | 1961153 | T | A | PDYN | Uncertain significance | PCCD | Su et al. [71] | 20 | 1961154 | C | G | PDYN | Uncertain significance | PCCD | Su et al. [71] | 7 | 151560613 | A | G | PRKAG2 | Uncertain significance | HCM; AVB | Thevenon et al. [72] | 3 | 38550326 | G | T | SCN5A | Uncertain significance | SSS | Chen et al. [73] | 3 | 38603929 | G | C | SCN5A | Uncertain significance | AVB | Nikulina et al. [74] | 3 | 38556532 | T | C | SCN5A | Uncertain significance | SSS | Hothi et al. [41] Asadi et al. [75] | 3 | 38550734 | A | C | SCN5A | Uncertain significance | SSS | Abe et al. [76] | 3 | 38613790 | C | T | SCN5A | Likely pathogenic | SSS | Abe et al. [76] | 3 | 38566426 | C | T | SCN5A | Pathogenic | AVB; DCM | Watanabe et al. [77] | 3 | 38550899 | T | A | SCN5A | Uncertain significance | SSS | Ishikawa et al. [31] | 3 | 38581137 | G | A | SCN5A | Likely benign | AVB | Hu et al. [78] | 3 | 38581002 | C | T | SCN5A | Uncertain significance | SSS; AFL; AF | Moreau et al. [79] | 3 | 38633207 | G | T | SCN5A | Uncertain significance | AVB | Thongnak et al. [80] | 3 | 38613787 | G | A | SCN5A | Uncertain significance | PCCD; SSS | Baskar et al. [81] Celestino-Soper et al. [18] | 3 | 38597787 | C | A | SCN5A | Likely pathogenic | SSS; AFL | Selly et al. [82] | 3 | 38630342 | T | A | SCN5A | Pathogenic/likely pathogenic | SSS; AFL; VT | Holst et al. [43] | 3 | 38575424 | C | A | SCN5A | Uncertain significance | AVB; DCM | Ge et al. [83] | 3 | 38551477 | A | T | SCN5A | Likely pathogenic | SSS; AVB | Robyns et al. [84] | 3 | 38560398 | G | A | SCN5A | Pathogenic | AVB | Thongnak et al. [80] | 3 | 38550968 | C | A | SCN5A | Uncertain significance | SSS | Abe et al. [76] | 19 | 49196760 | G | A | TRPM4 | Uncertain significance | PCCD | Liu et al. [47] | 19 | 49157885 | G | A | TRPM4 | Pathogenic | PCCD; SSS | Kruse et al. [48] | 19 | 49167950 | G | A | TRPM4 | Benign | AVB; VT | Bianchi et al. [46] | 19 | 49196790 | A | G | TRPM4 | Likely benign | PCCD | Daumy et al. [5] | 19 | 49202140 | A | T | TRPM4 | Uncertain significance | AVB; VT | Bianchi et al. [46] | 19 | 49171597 | A | G | TRPM4 | Uncertain significance | AVB | Stallmeyer et al. [85] | 19 | 49200395 | A | G | TRPM4 | Pathogenic | AVB | Stallmeyer et al. [85] | 19 | 49168301 | C | T | TRPM4 | Pathogenic | PCCD | Liu et al. [47] | 19 | 49182608 | G | A | TRPM4 | Uncertain significance | AVB | Syam et al. [86] | 19 | 49188641 | G | A | TRPM4 | Uncertain significance | AVB | Syam et al. [86] | 19 | 49183108 | C | T | TRPM4 | Uncertain significance | PCCD | Liu et al. [47] | 19 | 49196597 | T | C | TRPM4 | Uncertain significance | AVB | Stallmeyer et al. [85] | 2 | 178569522 | G | T | TTN | Uncertain significance | SSS | Zhu et al. [20] |
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