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. 2023 Nov 4;14(11):2042. doi: 10.3390/genes14112042

Table 3.

Genetic findings in 176 Russian unrelated HCM patients.

All Probands
n = 176
Genotype-positive subjects, n (%) 66 (38)
Sarcomere-positive subjects, n (%) 62 (35)
VUS only subjects, n (%) 7 (4)
At least one P/LP/VUS-LP variant, n (%)
MYBPC3 31 (18)
  • -

    truncating/non-truncating

 21/10 (12/5.7)
  • -

    p.Q1233*

 8 (4.6)
MYH7 20 (11)
TPM1 6 (3.4)
TNNT2 2 (1)
TNNI3 2 (1)
MYL2 1 (0.6)
MYL3 0
ACTC1 1 (0.6)
TNNC1 2 (1)
FLNC 5 (2.8)
  • -

    FLNC only

 1/6 (0.6)
ALPK3 2/37 (5)
TRIM63 1/50 (2)
Multiple P/LP/VUS-LP variants, n (%) 10 (5.7)
  • -

    Sarcomeric multiple variants only

 4 (2.3)

P—pathogenic; LP—likely pathogenic; VUS—variant of uncertain significance; MYBPC3—cardiac myosin-binding protein C; MYH7—myosin heavy chain; TPM1—tropomyosin; TNNT2—cardiac troponin T; TNNI3—cardiac troponin I; MYL2—regulatory myosin light chain; MYL3—essential myosin light chain; ACTC1—alpha-actin; TNNC1—troponin C; FLNC—filamin C; ALPK3—Alpha-protein kinase 3; TRIM63—tripartite motif containing 63.