Table 6.
Variants identified in the TRIM63 gene (transcript NM_032588, MANE select).
| Patient ID | Genotype | Variant type | AA change | rs ID | CADD | ACMG/ClinVar | GnomAD-AF | Additional variant |
|---|---|---|---|---|---|---|---|---|
| HCM-44 | Het | Missense | Ex1:p.(Cys23Tyr) | rs754874432 | 31 | LP/NA | 0.00003182 |
MYBPC3:p.(Arg1022Pro) MYH7: p.(His1185Gln) |
| HCM-111 | Hom | Missense | Ex1:p.(Cys23Tyr) | rs754874432 | 31 | LP/NA | 0.00003182 | SVIL: p.(Ser1414Thr) |
| HCM-112 | Hom | Missense | Ex2:p.(Cys75Tyr) | rs200811483 | 31 | LP/Conflicting | 0.00009952 | Unique variant |
| HCM-113 | Het | Missense | Ex2:p.(Cys75Tyr) | rs200811483 | 31 | LP/Conflicting | 0.00009952 | Unique variant |
| HCM-63 | Het | Missense | Ex2:p.(Cys75Tyr) | rs200811483 | 31 | LP/Conflicting | 0.00009952 |
MYH7: p.(Arg869His) MYLK2: p.(Ser510Leu) |
| HCM-114 | Hom | Stopgain | Ex5:p.(Gln247*) | rs148395034 | 38 | VUS/Conflicting | 0.0006787 | Unique variant |
| HCM-115 | Het | Stopgain | Ex5:p.(Gln247*) | rs148395034 | 38 | VUS/Conflicting | 0.0006787 | Unique variant |
| HCM-116 | Het | Stopgain | Ex5:p.(Gln247*) | rs148395034 | 38 | VUS/Conflicting | 0.0006787 | ACTN2: p.(Val458Met) |
| HCM-117 | Het | Stopgain | Ex5:p.(Glu261*) | rs149312738 | 40 | VUS/NA | 0.00001416 | Unique variant |
| HCM-118 | Het | Missense | Ex5:p.(Glu269Lys) | rs61749355 | 26.4 | LB/NA | 0.003159 | Unique variant |
| HCM-119 | Het | Missense | Ex5:p.(Thr262Ile) | rs889710255 | 25.6 | VUS/NA | 0.000003982 | SVIL: p.(Glu1286Lys) |
| HCM-120 | Het | Missense | Ex7:p.(Ile322Thr) | rs368532655 | 23.6 | VUS/VUS | 0.00001989 | SVIL: p.(Val1490Ala) |
AA, amino acid; ACMG, American College of Medical Genetics and Genomics; Het, heterozygous; Hom, homozygous; LB, likely benign; LP, likely pathogenic; VUS, variant of uncertain significance; NA, no data available; Conflicting, conflicting interpretations of pathogenicity; CADD, combined annotation-dependent depletion scores according to CADD model v1.3; GnomAD-AF, allele frequency according to gnomAD V2.1.