Table 2.
Sudden Cardiac Death Case/Control Status and Clinical Characteristics of Carriers of a Pathogenic or Likely Pathogenic Mutation
| Case ID |
Age*/ Sex |
Case / Control |
Known ASCVD† |
Known CHF‡ |
Variant § | Gene (Variant Type) |
Amino acid or cDNA change |
Associated disease | Classification using ACMG criteria |
|---|---|---|---|---|---|---|---|---|---|
| Cardiomyopathy variants | |||||||||
| P1 | 64M | Case | No | No | 2:179417587:C>A |
TTN Premature stop |
p.Gly27446Ter | Dilated cardiomyopathy | Likely pathogenic |
| P2 | 81M | Case | No | Yes | 2:179433438:G>T |
TTN Premature stop |
p.Tyr23239Ter | Dilated cardiomyopathy | Likely pathogenic |
| P3 | 64F | Case | Yes | No | 2:179444577:T>G |
TTN Splice site |
c.59645-2A>C | Dilated cardiomyopathy | Likely pathogenic |
| P4 | 75M | Case | No | No | 2:179486244:G>A |
TTN Premature stop |
p.Arg12535Ter | Dilated cardiomyopathy | Likely pathogenic |
| P5 | 61M | Case | No | Yes | 2:179604601:TTC>T |
TTN Frameshift |
p.Glu4215ArgfsTer7 | Dilated cardiomyopathy | Likely pathogenic |
| P6 | 78F | Case | No | No | 19:55665525:C>T |
TNNI3 Missense |
p.Arg141Gln | Hypertrophic cardiomyopathy | Likely pathogenic |
| Coronary artery disease variants | |||||||||
| P7 | 78M | Case | Yes | No | 19:11213408:T>G |
LDLR Missense |
p.Trp87Gly | Familial hypercholesterolemia | Pathogenic |
| P8 | 70M | Case | No | No | 19:11213408:T>G |
LDLR Missense |
p.Trp87Gly | Familial hypercholesterolemia | Pathogenic |
| P9 | 69F | Case | Yes | Yes | 19:11221435:C>T |
LDLR Premature stop |
p.Arg350Ter | Familial hypercholesterolemia | Pathogenic |
| P10 | 73F | Case | No | No− | 19:11224299:T>C |
LDLR Missense |
p.Trp483Arg | Familial hypercholesterolemia | Likely pathogenic |
| Arrhythmia syndrome variants | |||||||||
| P11 | 53F | Case | No | No | 6:7580603:C>T |
DSP Premature stop |
p.Gln1394Ter | Arrhythmogenic right ventricular cardiomyopathy | Likely pathogenic |
| P12 | 60M | Case | No | No | 7:150647424:G>A |
KCNH2 Premature stop |
p.Arg744Ter | Long QT syndrome | Pathogenic |
| P13 | 67M | Case | Yes | Yes | 7:150655169:CG>C |
KCNH2 Frameshift |
p.Pro298ArgfsTer62 | Long QT syndrome | Likely pathogenic |
| Aortopathy/ aortic dissection variants | |||||||||
| P14 | 75F | Case | No | No | 2:189855742:C>T |
COL3A1 Premature stop |
p.Arg271Ter | Vascular Ehlers-Danlos syndrome | Pathogenic |
| P15 | 80F | Case | Yes | No | 15:48892335:C>T |
FBN1 Splice site |
c.442+1G>A | Marfan syndrome | Likely pathogenic |
*
Age refers to age at sudden cardiac death event.
†
Known ASCVD (atherosclerotic cardiovascular disease) prior to sudden cardiac death based upon review of medical records
‡
Known CHF (congestive heart failure) or cardiomyopathy prior to sudden cardiac death based upon review of medical records
§
Variant is described based on’ chromosome:position reference allele>alternate allele’ formatting, with chromosome positions based on the GRCh37 genome assembly