Table 3.

Variants identified in the TNNT2 gene (transcript NM_001276345, MANE select).

Patient ID	Genotype	Variant type	AA change	rs ID	CADD	ACMG/ClinVar	GnomAD-AF	Additional variant
HCM-73	Het	Missense	Ex9:p.(Val95Met)	NA	30	VUS/LP	NA	Unique variant
HCM-74	Het	Missense	Ex16:p.(Lys283Glu)	rs1553279294	28.4	VUS/P	NA	Unique variant

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; CADD, combined annotation-dependent depletion scores according to CADD model v1.3; GnomAD-AF, Aalele frequency according to gnomAD V2.1.1.