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]