Table 1 Proportion of P/LP/VUS variant carriers for the patient subsets screened with Sanger versus NGS, over the eight validated HCM sarcomeric genes

From: Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center

Gene

Variant positive (Sanger subset; n = 439)

Variant positive (NGS subset; n = 613)

Variant positive (NGS + Sanger subsets; n = 1,052)

P value for comparison of Sanger versus NGS

MYBPC3

121 (27.6%)

167 (27.2%)

288 (27.4%)

1

MYH7

71 (16.2%)

78 (12.7%)

149 (14.2%)

0.34

TNNT2

12 (2.7%)

18 (2.9%)

30 (2.9%)

1

TNNI3

6 (1.4%)

23 (3.8%)

29 (2.8%)

0.17

MYL2

7 (1.6%)

5 (0.8%)

12 (1.1%)

0.51

MYL3

0 (0.0%)

7 (1.1%)

7 (0.7%)

0.18

TPM1

2 (0.5%)

4 (0.7%)

6 (0.6%)

1

ACTC1

1 (0.2%)

2 (0.3%)

3 (0.3%)

1

  1. HCM, hypertrophic cardiomyopathy; LP likely pathogenic; NGS next-generation sequencing; P pathogenic; VUS variant of uncertain significance.
  2. Data refer to the 1,052 probands tested on all 8 genes. Reported P values are adjusted for testing eight genes with the false discovery rate method.
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