Table 5.
Known variants in the epilepsy‐related sudden unexpected death cases. Abbreviations: MAF, minor allele frequency; ExAC, Exome Aggregation Consortium database; AFR, African/African American; AMR, Latino; EAS, East Asian; FIN, Finnish; NFE, Non‐Finnish European; SAS, South Asian; OTH, Other; Path, possible pathogenicity; Ref, references; LQTS, long QT syndrome; BrS, Brugada syndrome; SSS, sick sinus syndrome; Int, intermediate; DCM, dilated cardiomyopathy; LVNC, left ventricular non‐compaction; ARVC, arrythmogenic right ventricular cardiomyopathy; HCM, hypertrophic cardiomyopathy; ND, not described. Bold shows a MAF of the variants in EAS cohort in ExAC.
| Gene | Case | Transcript | Protein | dbSNP | Disease | MAF | Path | Ref |
|---|---|---|---|---|---|---|---|---|
| ExAC | ||||||||
| SCN5A | 2,7,12 | NM_198056.2 | p.Arg1193Gln | rs41261344 | LQTS, BrS, SSS | ALL:A=0.62% − AFR:0% − AMR:0.069% − EAS:7.09% − SAS:0.049% − NFE:0.13% − FIN:0.13% − OTH:0.32% | Int | (29.65) |
| DSC2 | 2,4 | NM_024422.3 | p.Gly790del | rs377272752 | ARVC | ALL:0.14% − AFR:0% − AMR:0% − EAS:1.77% − SAS:0.067% − NFE:0% − FIN:0.015% − OTH:0.22% | ND | 42 |
| LDB3 | 3 | NM_007078.2 | p.Asp673Asn | rs45514002 | DCM, LVNC | ALL:A=0.017% − AFR:0.0096% − AMR:0% − EAS:0.16% − SAS:0% − NFE:0.0090% − FIN:0% − OTH:0% | High | (2.67) |
| DSC2 | 6 | NM_024422.3 | p.Thr275Met | ND | ARVC | ALL:T=0.0025% − AFR:0% − AMR:0% − EAS:0% − SAS:0.012% − NFE:0.0015% − FIN:0% − OTH:0% | High | 21 |
| KCNE1 | 6 | NM_001127670.2 | p.Asp85Asn | rs1805128 | LQTS | ALL:A=0.92% − AFR:0.18% − AMR:0.19% − EAS:0.56% − SAS:0.14% − NFE:1.32% − FIN:1.65% − OTH:0.77% | High | 66 |
| MYBPC3 | 7 | NM_000256.3 | p.Thr1046Met | rs371061770 | HCM | ALL:T=0.0058% − AFR:0% − AMR:0% − EAS:0.058% − SAS:0% − NFE:0.0030% − FIN:0% − OTH:0% | Low | 1 |