Table 1 of
Ben Yosef, Mol Vis 2023; 29:1-12. Table 1 of
Ben Yosef, Mol Vis 2023; 29:1-12.
Table 1. Causative and possibly-causative variants identified in Ethiopian Jewish IRD patients.
| Gene (Accession number) | Variant | ClinVar accession number | dbSNP ID | gnomAD aggregated MAF | In silico predictions a | ACMG classification | Phenotypes associated with this gene | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SIFT | Varity | Revel | MutationTaster | SpliceAI | dbscSNV Ada | dbscSNV RF | |||||||
| ABCA4 (NM_000350) | c.242G>C; p.(Cys81Ser) b | RCV001002848.1 | rs1570433137 | - | U | D | D | D | NA | NA | NA | Likely Pathogenic | arSTGD1, arMD, arRP, arFFM, arCRD |
| c.2966T>C; p.(Val1989Ala) | RCV000085529.20 | rs61749454 | 0.0003 | U | D | D | D | NA | NA | NA | Pathogenic | ||
| c.4253+5G>A; p.Ile1377Hisfs*3 | RCV000408462.3 | rs61750138 | 0.000012 | NA | NA | NA | NA | D | D | D | Likely Pathogenic | ||
| c.4793C>A; p.(Ala1598Asp) | RCV000085674.12 | - | 0.000024 | U | D | D | D | NA | NA | NA | Pathogenic | ||
| c.4854G>C; p.(Trp1618Cys) | RCV001074894.1 | rs61752439 | 0.000016 | D | D | D | D | NA | NA | NA | Pathogenic | ||
| c.5882G>A; p.(Gly1961Glu) | RCV000078670.31 | rs1800553 | 0.0046 | U | D | D | D | NA | NA | NA | Pathogenic | ||
| c.6077delT; p.(Leu2026Argfs*35) b | RCV001002808.1 | rs1571245809 | - | NA | NA | NA | NA | NA | NA | NA | Pathogenic | ||
| BEST1 (NM_004183) | c.970G>T; p.(Glu324*) b | - | - | - | NA | NA | NA | D | NA | NA | NA | Likely Pathogenic | adBest vitelliform MD, ad vitreoretinochoroidopathy, ARB, arRP, adRP |
| c.1622delT; p.(Leu541Argfs*68) b | RCV002002203.3 | - | - | NA | NA | NA | NA | NA | NA | NA | Pathogenic | ||
| P3H2 (LEPREL1) (NM_018192) | c.1213C>T; p.(Arg405*) | RCV001809893.1 | rs377600857 | 0.000024 | NA | NA | NA | D | NA | NA | NA | Pathogenic | ar high Myopia, with cataract and vitreoretinal degeneration |
| PCARE (NM_001029883) | c.776_777delAG; p.(Glu259Alafs*51) | RCV001268685.1 | rs1572829514 | - | NA | NA | NA | NA | NA | NA | NA | Pathogenic | arRP |
| PDE6A (NM_000440) | c.1957C>T; p.(Arg653*) | RCV000627204.13 | rs753942596 | 0.000028 | NA | NA | NA | D | NA | NA | NA | Pathogenic | arRP |
| PDE6B (NM_000283) | c.339_353del; p.(Gln114_Val118del) b | - | - | - | - | - | - | - | NA | NA | NA | VUS | arRP, adCSNB |
| RP1L1 (NM_178857) | c.194T>C; p.(Met65Thr) b | RCV001361602.2 | - | 0.0006 | U | D | D | D | NA | NA | NA | VUS | AD Occult MD, arRP, arMD |
| USH2A (NM_206933) | c.784+14389G>T;p.Gly262Aspfs*26 | - | - | 0.00048 | NA | NA | NA | NA | NA | NA | NA | Pathogenic | arUSH2A, arRP |
| c.7951A>G; p.(Asn2651Asp) | RCV001724132.3 | rs141134147 | 0.000021 | B | B | B | B | NA | NA | NA | VUS | ||