Table 3 Variants found during the reanalysis of 68 cases of arRD. Three of the 4 variants were classified as pathogenic and confirmed as causal variants, 1 of the variants was however classified as VUS waiting for experimental confirmation.
Sample | Gene | Transcript | Nucleotide | Protein | Type | Inheritance | Zygosity | Phenotype | Region | ACMG | ACMG Criteria | GnomAD AF |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
18-0126 | GUCY2D | NM_000180.3 | c.389del | p.Pro130LeufsTer36 | Del | AR | HET | Leber´s congenital Amaurosis | Exonic | Pathogenic | PVS1, PP5, PM2, PM3 | 0.0000174 |
16-0951 | CEP290 | NM_025114.4 | c.1666del | p.Ile556PhefsTer17 | Del | AR | HET | Leber´s congenital Amaurosis | Exonic | Pathogenic | PVS1,PS3, PP5, PP3 | - |
21-0476 | AHI1 | NM_017651.4 | c.910dup | p.Thr304AsnfsTer6 | Dup | AR | HET | Joubert Syndorme | Exonic | Likely Pathogenic | PVS1, PM2, PM3, PP5, PP3 | - |
07-0707 | TULP1 | NM_003322.6 | c.371_394del | p.Asp124Glu131del | Del | AR/AD | HET | Retinitis Pigmentosa | Exonic | VUS | PM4, PP3, PP5, BS1, BS2 | 0.00198 |
