Table 1 Pathogenic or likely pathogenic variants identified by cardiomyopathy NGS panels in this study
Patient No | Phenotype | Family history | Gene | Ref sequence | Mutation | Mutation Type | Genotype | HGMD /ClinVar | 1000G frequency | EXAC frequency | ACMG/AMP |
|---|---|---|---|---|---|---|---|---|---|---|---|
4 | NMD +DCM | No | LMNA | NM_170707 | c.810+1G>T | Splicing | HTZ | Novel/Novel | – | – | P (PVS1,PM2;PP3) |
108 | ARVC | No | LMNA | NM_170707 | c.1400G>A, p.Trp467X | Nonsense | HTZ | Novel/Novel | – | – | P (PVS1;PM2;PP3) |
8 | LVNC | No | LMNA | NM_170707 | c.1621C>T p.Arg541Cys | Missense | HTZ | Apical left ventricular aneurysm(DM)/Pathogenic (recurrent) | – | – | LP (PM1;PM2;PP3;PP5) |
57 | HCM?RCM? | No | MYBPC3 | NM_000256 | c.532G>A, p.Val178Met | Missense | HTZ | HCM (DM)/conflicting interpretations | – | 2.05E-05 | LP (PM1;PM2;PP3;PP5) |
54 | HCM and VT | Yes | MYBPC3 | NM_000256 | c.613C>T, p.Gln205Ter | Nonsense | HTZ | HCM (DM)/ Pathogenic | – | – | P (PVS1;PM2;PP3;PP5) |
22 | HCM | Yes | MYBPC3 | NM_000256 | c.772G>A, p.Glu258Lys | Missense | HTZ | HCM (DM)/Pathogenic | – | 3.90E-05 | P (PS3;PM1;PM2;PP3;PP5) |
19 | HCM | No | MYBPC3 | NM_000256 | c.821+1G>A | Splicing | HTZ | HCM (DM)/Pathogenic | – | 4.31E-05 | P (PVS1;PP5) |
107 | HCM | Yes | MYBPC3 | NM_000256 | c.2371C>T, p.Gln791Ter | Nonsense | HTZ | HCM (DM)/Likely pathogenic | – | – | P (PVS1;PM2;PP3;PP5) |
45 | HCM | No | MYBPC3 | NM_000256 | c.2827C>T, p.Arg943Ter | Nonsense | HTZ | HCM (DM)/Pathogenic | – | 1.70E-05 | P (PVS1;PM2;PP3;PP5) |
28 | HCM | No | MYH7 | NM_000257 | c.2146G>A, p.Gly716Arg | Missense | HTZ | HCM (DM)/P | – | – | LP (PM1;PM2;PP3;PP5) |
97 | HCM | No | MYH7 | NM_000257 | c.2332C>T, p.Asp778Asn | Missense | HTZ | Novel/Novel | – | – | LP (PM1;PM2;PP3;PP5) |
10 | LVNC | No | MYH7 | NM_000257 | c.2821C>T, p.Arg941Cys | Missense | HTZ | Novel/Novel | – | – | LP (PM1;PM2;PP2;PP3) |
78 | HCM | Yes | MYH7 | NM_000257 | c.2866G>A, p.Asp956Asn | Missense | HTZ | Novel/Novel | – | – | LP (PM1;PM2;PP2;PP3) |
23 | HCM | Yes | MYH7 | NM_000257 | c.2872G>A, p.Glu958Lys | Missense | HTZ | Novel/Novel | – | – | LP (PM1;PM2;PP2;PP3) |
49 | DCM | No | MYH7 | NM_000257 | c.3235C>T, p.Arg1079Trp | Missense | HTZ | Sudden unexpected death (DM?)/conflicting interpretations | 0.0004 | 4.94E-05 | LP (PM1;PM2;PP3;PP5;BP6) |
60 | RCM or HCM | Yes | MYH7 | NM_000257 | c.4066G>A, p.Glu1356Lys | Missense | HTZ | HCM (DM) )/LP | – | – | LP (PM1;PM2;PP2;PP3;PP5) |
48 | HCM | No | MYH7 | NM_000257 | c.4130C>T, p.Thr1377Met | Missense | HTZ | HCM (DM)/LP | – | – | LP (PM1;PM2;PP2PP3;PP5) |
70 | RCM HCM | No | MYL3 | NM_000258 | c.383G>A, p.Gly128Asp | Missense | HTZ | Novel/LP | – | – | LP (PM1;PM2;PP2;PP5) |
62 | HCM | Yes | PRKAG2 | NM_016203.3 | c.1589A>G, p.His530Arg | Missense | HTZ | HCM (DM)/P | – | – | LP (PM1;PM2;PP3;PP5) |
39 | Undefined cardiomyopathy | No | SLC25A4 | NM_001151 | c.358G>A, p.Gly120Ser | Missense | HMZ | Novel/Novel | – | – | LP (PM1;PM2;PP3;PP4) |
95 | HCM | Yes | TMPO | NM_003276 | c.2084A>T, p.Ter695Leu | Stoploss | HTZ | Novel/Novel | – | – | LP (PM1;PM2;PM4;PP3) |
65 | Undefined cardiomyopathy | No | TNNC1 | NM_003280 | c.430A>G, p.Asn144Asp | Missense | HTZ | Novel/VUS | – | – | LP (PM1;PM2;PP2;PP5) |
73 | DCM | No | TNNI3 | NM_000363.4 | c.292C>T, p.Arg98Ter | Nonsense | HTZ | HCM(DM?)/VUS | – | 9.19E-05 | P (PVS1;PM2;PP3) |
6 | DCM | Yes | TTN | NM_133378 | c.54948delC, p.Cys18316GlyfsX17 | Frameshift deletion | HTZ | Novel/Novel | – | – | P (PVS1;PM2;PP1) |
58 | DCM | No | TTN | NM_133378 | c.59644C>T,p.Gln19882Ter | Nonsense | HTZ | Novel/Novel | – | – | P (PVS1;PM2) |
40 | DCM?LVNC? | No | TTN | NM_133378 | c.37879delG,p.Ala12627fs | Frameshift deletion | HTZ | Novel/Novel | – | – | P (PVS1;PM2) |