Table 1 of Gupta, Mol Vis 2023; 29:365-377.

Table 1. TGFBI variants identified in Congenital glaucoma and JOAG patients.

Subjects Variant rs number Transcript HGVS coding Amino acid
change gnomAD
South Asian frequency ACMG
Classification Clinical significance
Case 1 & Case 2 GAPO with glaucoma 5:135388650-C-T rs201210696 NM_000358.3:c.968C>T p.Ala323Val 0.0007 BS1, BS2,BP4 Likely Benign
JOAG 5:135388650-C-A rs201210696 NM_000358.3:c.968C>A p.Ala323Glu 0.0000326 PM2 US
JOAG 5:135397226-C- - NM_000358.3:c.1944del p.Ser649LeufsTer22 NA PM2 US
JOAG with GCD 5:135392469-C-T rs121909208 NM_000358.3:c.1663C>T p.Arg555Trp 0.0002070 PP5,PM1,PM5,PM5,PM2, PP3 Pathogenic
PCG 5:135382607-T-C - NM_000358.3:c.527T>C p.Val176Ala NA PP3 Likely Pathogenic

ACMG: American College of Medical Genetics US: Uncertain Significance NA: not available GAPO: Growth retardation, alopecia, pseudoanodontia, and progressive optic atrophy JOAG: Juvenile onset open angle glaucoma GCD: Granular corneal dystrophy PCG: Primary congenital glaucoma.

Gupta, Mol Vis 2023; 29:365-377. http://www.molvis.org/molvis/v29/365

©2023 Molecular Vision http://www.molvis.org/molvis/

ISSN 1090-0535