Table 5.
GLA gene mutations identified in the analysed cohort.
| ID Sample | GLA Genomic Variation (Chromosome X) |
Genotype | GLA cDNA Variation | ACMG Interpretation | Notes | Phenotype * |
|---|---|---|---|---|---|---|
| 5 | g.100653420C>A | HET | c.937G>T; p.Asp313Tyr | Pathogenic | exon 6 of 7 position 136 of 198 (coding) | Unknown CKD |
| 7 | g.100662901G>A | HET | c.-10C>T | Benign | exon 1 of 7 (5′UTR) position 101 of 304 | FSGS |
| 11 | g.100662901G>A | HET | c.-10C>T | Benign | exon 1 of 7 (5′UTR) position 101 of 304 | Unknown CKD |
| 38 | g.100662901G>A | HOM | c.-10C>T | Benign | exon 1 of 7 (5′UTR) position 101 of 304 | FSGS |
| 41 | g.100662901G>A | HET | c.-10C>T | Benign | exon 1 of 7 (5′UTR) position 101 of 304 | Unknown ESRD (TX) |
| 43 | g.100662901G>A | HOM | c.-10C>T | Benign | exon 1 of 7 (5′UTR) position 101 of 304 | Unknown ESRD (TX) |
| 46 | g.100662901G>A | HET | c.-10C>T | Benign | exon 1 of 7 (5′UTR) position 101 of 304 | Unknown ESRD (TX) |
| 65 | g.100662903C>T | HET | c.-12G>A | Benign | exon 1 of 7 (5′UTR) position 11 of 216 | FSGS |
| 93 | g.100662903C>T | HET | c.-12G>A | Benign | exon 1 of 7 (5′UTR) position 11 of 216 | FSGS |
| 133 | g.100662901G>A | HOM | c.-10C>T | Benign | exon 1 of 7 (5′UTR) position 101 of 304 | Unknown ESRD (TX) |
| 148 | g.100662901G>A | HOM | c.-10C>T | Benign | exon 1 of 7 (5′UTR) position 101 of 304 | Unknown ESRD (TX) |
| 152 | g.100662901G>A | HOM | c.-10C>T | Benign | exon 1 of 7 (5′UTR) position 101 of 304 | Unknown ESRD (TX) |
| 153 | g.100662903C>T | HOM | c.-12G>A | Benign | exon 1 of 7 (5′UTR) position 11 of 216 | Unknown ESRD (TX) |
| 167 | g.100652828G>T | HET | c.1259C>A; p.Thr420Lys | VUS/Likely Pathogenic | exon 7 of 7 position 260 of 297 (coding) | Unknown ESRD (TX) |
| 169 | g.100662901G>A | HET | c.-10C>T | Benign | exon 1 of 7 (5′UTR) position 101 of 304 | Unknown ESRD (TX) |
| 176 | g.100662901G>A | HET | c.-10C>T | Benign | exon 1 of 7 (5′UTR) position 101 of 304 | Unknown ESRD (TX) |
| 190 | g.100662901G>A | HET | c.-10C>T | Benign | exon 1 of 7 (5′UTR) position 101 of 304 | FSGS |
| 192 | g.100662901G>A | HOM | c.-10C>T | Benign | exon 1 of 7 (5′UTR) position 101 of 304 | Unknown CKD |
| 211 | g.100653420C>A | HET | c.937G>T; p.Asp313Tyr | Pathogenic | exon 6 of 7 position 136 of 198 (coding) | Unknown ESRD (TX) |
| g.100662901G>A | HET | c.-10C>T | Benign | exon 1 of 7 (5′UTR) position 101 of 304 | Unknown ESRD (TX) | |
| 217 | g.100662903C>T | HOM | c.-12G>A | Benign | exon 1 of 7 (5′UTR) position 11 of 216 | Unknown ESRD (TX) |
| 223 | g.100662903C>T | HOM | c.-12G>A | Benign | exon 1 of 7 (5′UTR) position 11 of 216 | FSGS |
| 224 | g.100662903C>T | HET | c.-12G>A | Benign | exon 1 of 7 (5′UTR) position 11 of 216 | Unknown ESRD (TX) |
| 226 | g.100662903C>T | HET | c.-12G>A | Benign | exon 1 of 7 (5′UTR) position 11 of 216 | Unknown CKD |
* FSGS: Focal segmental glomerulosclerosis, CKD: Chronic kidney disease, ESRD: End Stage Renal Disease, TX: Transplant.