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Table 1 Pathogenic or likely pathogenic variants identified by cardiomyopathy NGS panels in this study

From: Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies

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)
  1. HGMD: for human gene mutation database; DM: for damaging-mutation; VUS: uncertain significance variants; AF: atrial fibrillation; VT: ventricular tachycardia; NMD: neuromuscular disease. HMZ: homozygous; HTZ: heterozygous. B: benign; LB: likely benign; P: pathogenic; LP: likely pathogenic