Table 1.
Summary of SUDEP and SIDS cases with HTR2C variation
| Case | Pheno | Sex | AAD | Chr: Position | Variant† | AA change | Type | Zyg | Inh | Effect | Freq gnomAD | dbSNP | ClinVar |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 2273 | SUDEP | M | 26 Y | X: 114082728 | c.512C>T | p.Ala171Val | Ns | hem | mat | likely benign | 0.054% ± 0.011% | rs139581423 | novel |
| 2353 | SUDEP | F | 32 Y | X: 113965907 | c.240G>A | p.Met80Ile | Ns | het | u | VUS | absent | novel | novel |
| 2347 | SUDEP | F | 33 Y | X: 113965926 | c.259G>A | p.Ala87Thr | Ns | het | u | VUS | absent | novel | novel |
| 2354 | SUDEP | F | 31 Y | X: 114141802 | c.1201G>A | p.Val401Ile | Ns | het | u | likely benign | absent | novel | novel |
| 2232 | SUDEP | M | 12 Y | X: 114141856 | c.1255A>G | p.Thr419Ala | Ns | hem | u | VUS | 0.078% ± 0.013% | rs76454046 | novel |
| 2475 | SIDS | M | 3.5 Mo | X: 113965847 | c.181_196delGTCATCATAATAATCA | p.Val61Ter | Fs | hem | u | VUS (P) | absent | novel | novel |
| 2099 | SIDS | M | 3 Mo | X: 114141797 | c.1196C>T | p.Pro399Leu | Ns | hem | u | VUS | absent | novel | novel |
| 2086 | SIDS | M | 5 Mo | X: 114141535 | c.934G>A | p.Val312Ile | ns | hem | u | VUS | absent | novel | novel |
| 2478 | SIDS | F | 4 Mo | X: 114141468 | c.874_876delAAG | p.Lys292del (in frame) | del | het | u | VUS | 0.143% ± 0.051% | novel | novel |
| 2474 | SIDS | M | 2 Mo | X: 113965886 | c.220delG | p.Val74Ter | fs | hem | u | VUS (P) | absent | novel | novel |
| 2346 | EPI* | M | 34 Y | X: 114141815 | c.1214C>T | p.Ala405Val | ns | hem | u | VUS | absent | novel | novel |
†—Reference transcript for variant calls: NM_001256760.1, GRCH38 build, AAD, age at death; Chr, chromosome; del, deletion; EPI*, patient with epilepsy that died due to hypothermia; fs, frameshift variant; het, heterozygous; Inh, inheritance; mat, maternal; Mo, months; ns, nonsynonymous; (P), possibly pathogenic; Pheno, phenotype; u, unknown inheritance; VUS, variant of uncertain clinical significance; Y, years; Zyg, zygosity.