Table 3 of
Laguna, Mol Vis 2025; 31:306-317. Table 3 of
Laguna, Mol Vis 2025; 31:306-317.
Table 3. Genetic variants identified in the seven families.
| Family | Gene transcript | Variant/s | dbSNP ID | Frequency (gnomAD v.4.1.0) | Interpretation | ACMG criteria | Inheritance pattern | |
|---|---|---|---|---|---|---|---|---|
| cDNA | Protein | |||||||
| 1 | CYP1B1 (NM_000104.4) | c.840C>A (mat); c.1064_1076del (pat) | p.Cys280Ter (mat); p.Arg355HisfsTer69 (pat) | rs778202993; rs72549380 | 0.001%; 0.02% | Pathogenic; Pathogenic | PVS1, PM2, PM3; PVS1, PM2, PM3 | AR |
| 2 | MYOC (NM_000261.2) | c.1139A>C | p.Asp380Ala | - | Not found | Pathogenic | PM2, PM5, PS3, PS4, PP1, PP3 | AD |
| 3 | MYOC (NM_000261.2) | c.1150G>A | p.Asp384Asn | - | 0.0007% | Likely pathogenic | PM2, PS4, PP1, PP3 | AD |
| 4 | FOXC1 (NM_001453.3) | c.257T>C | p.Leu86Pro | - | Not found | Pathogenic | PM2, PM5, PP1, PP3 | AD |
| 5 | COL2A1 (NM_001844.5) | c.3137dup | p.Gly1047TrpfsTer11 | - | Not found | Pathogenic | PVS1, PM2, PP1 | AD |
| CYP1B1 (NM_000104.4) | c.1103G>A | p.Arg368His | rs79204362 | 0.2% | VUS | PM5, PP3 | AR | |
| 6 | TRPC6 (NM_004621.5) | c.2683C>T | p.Arg895Cys | rs121434394 | Not found | Likely pathogenic | PM2, PM5, PP3 | AD |
| 7 | COL18A1 (NM_001379500.1) | c.1311+5G>C | - | rs200610309 | 0.02% | VUS | PM2 | AD |