Table 1 Russian patients with HCM whose genome contains pathogenic, likely pathogenic variants, and variants with unknown clinical significance in the GLA gene
No. of patient | Gender | Age, years | Nucleotide variant, amino-acid variant | Frequency ingnomAD, % | Pathogenicity (ACMG) | Pathogenicity (HGMD) | α-galA, μmol/l/h (Ref ≥ 189 μmol/l/h) | lyso-Gb3, ng/ml (Ref ≤ 191 ng/ml) |
|---|---|---|---|---|---|---|---|---|
71,404 | m | 51 | c.640-794_640-791del | n/a | VUS(PM2) | n/d | 4.57 | 1.20 |
72,609 | f | 68 | c.1287_1288dup,p.*430Fext*? | n/a | pathogenic(PVS1;PS3;PM2) | n/d | 0.88 | 4.60 |
74,418 | m | 45 | c.546T > C, p.D182D | n/a | VUS(PM2;BP7) | n/d | 3.86 | 0.24 |
74,695 | f | 69 | c.427G > A, p.A143T | 0.051 | VUS(PM1;PM2;PP3) | Possibly not pathogenic [CM972773] | 5.46 | 0.47 |
76,525 | m | 42 | c.902G > A, p.R301Q | n/a | pathogenic(PS3;PM1;PM2;PP3;PP5) | Fabry disease, atypical variant[CM900111] | 0.22 | 7.40 |
78,074 | f | 68 | c.416A > G,p.N139S | 0.019 | VUS (PM1;PM2;PP5;BP4;BP6) | Fabrydisease [CM103681] | 2.36 | 2.15 |
78,335 | f | 69 | c.971T > G, p.L324W | n/a | VUS(PM2; PP3) | n/d | 4.25 | 0.79 |
80,670 | f | 49 | c.897C > A, p.D299E | n/a | likely pathogenic(PS3; PM1; PM2; PP3) | n/d | 1.82 | 3.06 |