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

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

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
  1. 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)
  2. 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