Table 2.
Variants identified in the MYH7 gene (transcript NM_000257, MANE select).
| Patient ID | Genotype | Variant type | AA change | rs ID | CADD | ACMG/ClinVar | GnomAD-AF | Additional variant |
|---|---|---|---|---|---|---|---|---|
| HCM-52 | Het | Missense | Ex8:p.(Asn232Ser) | NA | 24.8 | VUS/NA | NA |
MYH6: p.(His1526Arg) CAV3: p.(Thr78Met) |
| HCM-53 | Het | Missense | Ex9:p.(Ile250Phe) | rs397516268 | 25.4 | VUS/Conflicting | NA | Unique variant |
| HCM-54 | Het | Missense | Ex14:p.(Arg453Cys) | rs121913625 | 33 | P/P | NA | Unique variant |
| HCM-55 | Het | Missense | Ex18:p.(Arg663His) | rs371898076 | 27.8 | P/P | 0.00001414 | Unique variant |
| HCM-56 | Het | Missense | Ex19:p.(Arg694Cys) | rs727504240 | 34 | VUS/Conflicting | 0.00001989 | Unique variant |
| HCM-57 | Het | Missense | Ex19:p.(Arg719Gln) | rs121913641 | 34 | P/P | NA | SVIL: p.(Val1438Met) |
| HCM-58 | Het | Missense | Ex20:p.(Gly741Arg) | rs121913632 | 33 | P/P | 0.00003185 | Unique variant |
| HCM-59 | Het | Missense | Ex20:p.(Ile736Thr) | rs727503261 | 24.7 | P/P | NA | Unique variant |
| HCM-60 | Het | Missense | Ex21:p.(Ala797Thr) | rs3218716 | 20.5 | P/P | 0.00002386 | Unique variant |
| HCM-61 | Het | Missense | Ex21:p.(Arg787Cys) | rs145677314 | 22.7 | VUS/Conflicting | 0.00006364 |
VCL: p.(His636Arg) MYPN: p.(Asp1208Gly) |
| HCM-62 | Het | Missense | Ex21:p.(Gly768Arg) | rs727503260 | 35 | P/P | NA | SVIL: p.(Ser1414Thr) |
| HCM-63 | Het | Missense | Ex22:p.(Arg869His) | rs202141173 | 34 | VUS/LP | 0.00002386 |
MYLK2: p.(Ser510Leu) TRIM63: p.(Cys75Tyr) |
| HCM-44 | Het | Missense | Ex27:p.(His1185Gln) | NA | 24.0 | VUS/NA | NA |
MYBPC3:p.(Arg1022Pro) TRIM63: p.(Cys23Tyr) |
| HCM-64 | Het | Missense | Ex33:p.(Glu1546Gly) | NA | 29.3 | VUS/NA | NA | Unique variant |
| HCM-65 | Het | Missense | Ex35:p.(Arg1712Gln) | rs193922390 | 28.3 | LP/P | 0.00002125 | Unique variant |
| HCM-66 | Het | Missense | Ex37:p.(Glu1829Lys) | rs143562243 | 27.9 | VUS/VUS | 0.00001594 | FLNC: p.(Arg1719Cys) |
AA, amino acid; ACMG, American College of Medical Genetics and Genomics; Het, heterozygous; P, pathogenic; 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 V2.1.1.