Table 1

Proportion of variants with evidence of pathogenicity in hotspot and hotspot+ models

VUSLikely pathogenicPathogenic
NSup. (%)Mod. (%)Str. (%)NSup. (%)Mod. (%)Str. (%)NSup. (%)Mod. (%)Str. (%)
Hotspot models
MYH71231028093335503631610
MYBPC397351201338230633670
TNNT2192147040500401000
TNNI31817670119910401000
MYL2122500110000210000
MYL31000030001000
Hotspot+ models
MYH712318264931658143687517
MYBPC39716257131554156173350
TNNT219162616405025405050
TNNI31822332211184536405050
MYL2120250101000250500
MYL31000030001000
  • Each observed variant across six genes in our HCM cases was given supporting (OR >10; Sup.), moderate (OR >20; Mod.) or strong (OR >100; Str.) evidence of pathogenicity based on model predictions from the hotspot and hotspot+ models. The proportion of variants with supporting, moderate or strong evidence are stratified by expert classifications made by Oxford Medical Genetics Laboratory.

  • HCM, hypertrophic cardiomyopathy.