Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients

Table 3 Variant type and classification in genes (> 5 LP/P variants)

Gene	Pathogenic	Likely Pathogenic	LoF	Splice	Missense	Inframe deletion
MYBPC3	101 (27.1%)	47 (12.6%)	81 (21.7%)	39 (10.5%)	23 (6.2%)	5 (1.3%)
MYH7	75 (20.1%)	33 (8.8%)	0	0	106 (28.4%)	2 (0.5%)
TPM1	21 (5.6%)	9 (2.4%)	0	0	30 (8.0%)	0
TNNI3	7 (1.9%)	4 (1.1%)	0	0	11 (2.9%)	0
JPH2	10 (2.7%)	0	0	0	10 (2.7%)	0
TNNT2	7 (1.9%)	2 (0.5%)	0	0	7 (1.9%)	2 (0.5%)
RAF1	3 (0.8%)	5 (1.3%)	0	0	8 (2.1%)	0
GLA	3 (0.8%)	3 (0.8%)	2 (0.5%)	0	4 (1.1%)	0

Variant types and classification of likely pathogenic and pathogenic variants in genes in which more than five variants were detected. Percentages represent the proportion of total variants identified (n = 373)
LP for likely pathogenic, P for pathogenic, LoF for Loss of function, Splice for consensus splice site variant or other variant with known or suspected effect on splicing. A total of five splice variants were at a position greater than ± 10 bp from the intron/exon boundary

ISSN: 1471-2261