Table 3 List of missense variants classified as ‘benign or Likely benign’ by the ACMG guidelines
From: A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023
| Â | cDNA change | Protein change | gnomAD MAF | Disease | Population | Consanguinity | Zygosity | ACMG |
|---|---|---|---|---|---|---|---|---|
SEMA4A | c.2138G > A | p.(Arg713Gln) | 0.03651 | adRP | N.D | No | Heterozygous | Benign |
USH2A | c.7334C > T | p.(Ser2445Phe) | 0.000841 | arUSH2 | KPK | No | Homozygous | Benign |
RPGRIP1 | c.1639G > T | p.(Ala547Ser) | 0.2038 | arCRD | N.D | Yes | Homozygous | Benign |
RP1 | c.1118C > T | p.(Thr373Ile) | 0.01215 | arRP | N.D | Yes | Homozygous | Benign |
ZNF513 | c.1015 T > C | p.(Cys339Arg) | 0.0001668 | arRP | Punjab | Yes | Homozygous | Benign |
ALMS1 | c.5242A > G | p.(Lys1748Glu) | NA | arAS | Punjab | Yes | Homozygous | Benign |
RAX2 | c.374G > A | p.(Gly125Glu) | NA | arRD | Punjab | Yes | Homozygous | Likely Benign |
RAX2 | c.8299A > T | p.(Thr2777Ser) | NA | arRP | Punjab | Yes | Homozygous | Likely Benign |