Table 2.
Molecular features of patients reported in this study.
| Family | Patient | Variant position | Zygosity | Allele frequency in gnomAD | Pathogenicity | ACMG criteria |
|---|---|---|---|---|---|---|
| 1 | 1.1 | c.217_244del; p.Pro73Serfs*72 | Het | 0% | Pathogenic | PVS1, PM2, PP4 |
| 1 | 1.2 | c.217_244del; p.Pro73Serfs*72 | Het | 0% | Pathogenic | PVS1, PM2, PP4 |
| 2 | 2.1 | c.324_325insAGGCGGCCCCG; p.Ala110Argfs*48 | Het | 0% | Pathogenic | PVS1, PS2 PM2, PP4 |
| 3 | 3.1 | c.314_324del; p.Glu105Alafs*24 | Het | 0% | Likely pathogenic | PVS1, PM2, BS4 |
| 4 | 4.1 | Del 1q42.2-42.3 | Het | 0% | Pathogenic | PVS1, PS2 PM2, PP4 |
| 5 | 5.1 | c.1754_1757del; p.Arg585Thrfs*12 | Het | 0% | VUS | PM2, BS4 |
PVS1: Null variant in a gene where LoF is a known mechanism of disease; PS2: De novo in a patient with the disease and no family history.; PM2: Absent from controls; PP4: Patient’s phenotype or family history is highly specific for a disease with a single genetic etiology; BS4: Lack of segregation in affected members of a family.