Table 1.
Clinical and genetic characteristics of the patients. HCM, hypertrophic cardiomyopathy.
| ID | Cardiological Features | Genetic Variants | ACMG Score | Gnomad Frequencies | ClinVar Classification |
|---|---|---|---|---|---|
| III.1 | HCM | PTPN11 gene (c.1510A>G, p.Met504Val, NM_002834.3) |
PS3 | 0.00000882 | Pathogenic |
| MYBPC3 gene (c.1790G>A, p.Arg597Gln, NM_000256.3) |
PM1 | 0.00000886 | Likely pathogenic | ||
| II.4 | HCM | PTPN11 WT/WT MYBPC3 gene (c.1790G>A, p.Arg597Gln, NM_000256.3) |
PM1 | 0.00000886 | Pathogenic |
| II.5 | No evidence of cardiovascular abnormalities | PTPN11 WT/WT MYBPC3 WT/WT |
N/A | N/A | N/A |