Characteristics of patients with GLA variants
| Sex | Age | Variant | Freq norm | dbfgp.org | fabry-database.org | Duro et al 2018 | LysoGb3 (ng/mL) | RF | CCP | Diagnosis |
| Female | 62 | p.Asp313Tyr | 0.50% | Benign | Polymorphism | GVUS | <0.6 | 0 | 0 | RA |
| Female | 43 | p.Asp313Tyr | 0.50% | Benign | Polymorphism | GVUS | 0.7 | 1 | 1 | RA |
| Female | 58 | p.Ala143Thr | 0.07% | Likely benign | Polymorphism | GVUS | 0.7 | 0 | 0 | SScl |
| Female | 64 | p.Asp313Tyr | 0.50% | Benign | Polymorphism | GVUS | <0.5 | 0 | 1 | RA |
| Female | 79 | p.Arg118Cys | 0.05% | Likely benign | NA | GVUS | <0.5 | 1 | 1 | RA |
| Female | 65 | p.Asp313Tyr | 0.50% | Benign | Polymorphism | GVUS | 0.7 | 0 | 1 | RA |
| Female | 70 | p.Arg252Thr | Unknown | Benign | NA | NA | 0.8 | 0 | 0 | RA |
| Female | 60 | p.Asp313Tyr | 0.50% | Benign | Polymorphism | GVUS | <0.5 | 1 | 1 | RA |
Details of patients with variants in the alpha-galactosidase A gene identified in the early arthritis cohort. Genotype–phenotype correlation of the respective variants according to dedicated databases (dbfgp.org and fabry-database.org) or current literature (GVUS: genetic variant of unknown significance)1 as well as their approximate frequency in caucasians (freq norm, according to dbfgp.org), and concentration of globotriaosylsphingosine (lysoGb3; normal ≤0.9 ng/mL), the presence (‘1’) of rheumatoid factor (RF), antibodies to citrullinated peptides (CCP) and the final clinical diagnosis (diagnosis, RA: rheumatoid arthritis, SScl: systemic sclerosis). NA, not available.