Table 2.
Impact on abnormal splicing of the 9 unclassified variants in this study
| No. | Gene | Location | DNA variant | Urine mRNA change | Expected change | Effect on protein |
|---|---|---|---|---|---|---|
| VUS-1 | COL4A3 | intron 37 | c.3211-30G＞T | r.3210_r.3211ins [3211-19_3211-1] | frame shift (insertion of 19 bp) | p. Gly1071Valfs∗6 |
| VUS-2 | COL4A3 | intron 14 | c.828+5G>A | r.766_r.828del | Exon 14 skipping (63 bp) | p.256Asp_276Serdel21 |
| VUS-3 | COL4A4 | intron 37-exon 38 | c.3506-13_3528del | r. 3506_3577del | Exon 38 skipping (72 bp) | p.1170Pro_1193Glydel24 |
| VUS-4 | COL4A5 | intron 48 | c.4316-20T>A | r.4315_4316ins [4316-18_4316-1] | in-frame (insertion of 18 bp) | p. Pro1438_Gly1439ins6 |
| VUS-5 | COL4A5 | intron 18 | c.1033-10G>A | r.1032_r.1033ins [1033-8_1033-1] | frame shift (insertion of 8 bp) | p. Val345∗ |
| VUS-6 | COL4A5 | Exon 8 | c.451A>G | r.439_r.465del | Exon 8 skipping (27 bp) | p. Pro148_Gly156del9 |
| VUS-7 | COL4A5 | intron 18 | c.1033-10_1033-2del | r.1033_1043del | frame shift (deletion of 11 bp) | p. Val345Thrfs∗62 |
| VUS-8 | COL4A5 | intron 26 | c.2042-9 T>G | r.2042_2146del | Exon 27 skipping (105 bp) | p. Asp682_Gly716del35 |
| VUS-9 | COL4A5 | Exon 32 | c.2689 G>C | r. 2678_2767del | Exon 32 skipping (90 bp) | p. Thr894_Gly923del30 |
VUS, variants of uncertain significance