Table 1.
Number of variants in families affected by isolated hypoplastic left heart syndrome (iHLHS) identified by Mendelian-model-based analysis
| Phenotype category | Probands | ClinVar LP/P | ACMG LP/P | PP |
|---|---|---|---|---|
| Isolated HLHS | 6 | 0 | 2 | 4 |
| MC-MMS/CHD | 12 | 3 | 5 | 4 |
| Isolated CHD | 23 | 1 | 14 | 8 |
| Multiple candidate variants | 5 | 0 | 2 | 8 |
| Total probands explained | 46 | 4 | 23 | 19a |
a
Two variants were identified in five families, including eight PP variants. Hence, the total number of probands potentially explained by PP variants is 19 instead of 24. Abbreviations: ACMG, American College of Medical Genetics and Genomics; CHD, congenital heart defect; LP, likely pathogenic; MC-MMS, Mendelian conditions-multiple malformation syndromes; P, pathogenic; PP, predicted pathogenic.