Table 2 ClinVar classification, ACMG classification, and other features of all variants identified.
Family ID | Gene name | Transcript ID | cDNA change | Protein change | Previous reports | ClinVar | ACMG | ACMG criteria |
|---|---|---|---|---|---|---|---|---|
F003 | RDH12 | NM_152443.2 | c.379G > T | p.(Gly127Ter) | Pathogenic | Pathogenic | PVS1, PM2, PP1, PP3, PP5 | |
F007 | TULP1 | NM_003322.5 | c.1199G > A | p.(Arg400Gln) | Pathogenic | Likely pathogenic | PM2, PM5, PP1, PP3, PP5 | |
F009 | CRB1 | NM_201253.2 | c.601T > C | p.(Cys201Arg) | Uncertain significance | Likely pathogenic | PM2, PM3, PP1, PP3 | |
c.3879G > A | p.(Trp1293Ter) | Pathogenic | Pathogenic | PVS1, PM2, PP1, PP3, PP5 | ||||
F021 | CNGA3 | NM_001298.2 | c.848G > A | p.(Arg283Gln) | Pathogenic | Likely pathogenic | PM1, PM2, PM5, PP1, PP2, PP3, PP5 | |
F027 | RDH12 | NM_152443.2 | c.715C > T | p.(Arg239Trp) | Likely pathogenic | Likely pathogenic | PM2, PM5, PP1, PP3, PP5 | |
F034 | TULP1 | NM_003322.3 | c.1199G > A | p.(Arg400Gln) | Pathogenic | Likely pathogenic | PM2, PM5, PP1, PP3, PP5 | |
IRN_001 | GUCY2D | NM_000180.3 | c.564dup | p.(Ala189ArgfsTer130) | Novel | NA | Pathogenic | PVS1, PM2, PP1, PP3 |
IRN_004 | IQCB1 | NM_001023570.3 | c.1465C > T | p.(Arg489Ter) | Pathogenic | Pathogenic | PVS1, PM2, PP1, PP3, PP5 | |
IRN_028 | RP1 | NM_006269.1 | c.584dup | p.(Val196GlyfsTer33) | Novel | NA | Pathogenic | PVS1, PM2, PP1, PP3 |
IRN_033 | CNGA3 | NM_001298.2 | c.830G > A | p.(Arg277His) | Pathogenic | Likely pathogenic | PM1, PM2, PM5, PP1, PP3, PP5 | |
IRN_038 | USH1G | NM_173477.4 | c.980_993dup | p.(Glu332ThrfsTer53) | Novel | NA | Pathogenic | PVS1, PM2, PP1, PP3 |
IRN_039 | RP1 | NM_006269.1 | c.788-1G > A | r.spl | Novel | NA | Pathogenic | PVS1, PM2, PP1, PP3 |
IRN_041 | IQCB1 | NM_001319107.1 | c.1504C > T | p.(Arg502Ter) | Pathogenic | Pathogenic | PVS1, PM2, PP1, PP3, PP5 | |
IRN_042 | GUCY2D | NM_000180.3 | c.564dup | p.(Ala189ArgfsTer130) | Novel | NA | Pathogenic | PVS1, PM2, PP1, PP3 |
IRN_063 | ABCA4 | NM_000350.2 | c.885del | p.(Leu296CysfsTer4) | Pathogenic | Pathogenic | PVS1, PM2, PP1, PP3, PP5 | |
IRN_065 | BBS2 | NM_031885.3 | c.471G > A | p.(Thr157 =) | Uncertain significance | Uncertain significance | PM2, PP1, PP3 | |
IRN_070 | NMNAT1 | NM_022787.3 | c.520A > T | p.(Ile174Phe) | Novel | NA | Likely pathogenic | PM1, PM2, PM3, PP1, PP2, PP3 |
c.769G > A | p.(Glu257Lys) | Pathogenic | Likely pathogenic | PS3, PM2, PP1, PP2, BP4, PP5 |
