Table 1 of
Ordoñez-Labastida, Mol Vis 2023; 29:31-38. Table 1 of
Ordoñez-Labastida, Mol Vis 2023; 29:31-38.
Table 1. Novel RP- and USH2-causing variants in the USH2A gene identified in this study.
| Exon # | cDNA change | Protein change | ACMG classification | Allele frecuency |
|---|---|---|---|---|
| Retinitis pigmentosa | ||||
| 12 | c.2146A>T | p.Lys716Ter | pathogenic | 1 |
| 13 | c.2779C>T | p.Gln927* | pathogenic | 1 |
| 15 | c.2996G>T | p.Cys999Phe | likely pathogenic | 1 |
| 18 | c.4016T>G | p.Val1339Gly | likely pathogenic | 1 |
| 38 | c.7168G>T | p.Gly2390* | pathogenic | 1 |
| 41 | c.7940del | p.Pro2647Leufs*27 | pathogenic | 1 |
| 39–47 | deletion | pathogenic | 1 | |
| 50 | c.9914_9915del | p.Glu3305Valfs*40 | likely pathogenic | 1 |
| Usher syndrome | ||||
| intron 10 | c.1645–2A>G | likely pathogenic | 2 (1 homoz.) | |
| 11 | c.1860C>A | p.Cys620* | likely pathogenic | 2 (1 homoz.) |
| 11 | c.1850G>A | p.Cys617Tyr | likely pathogenic | 1 |
| 34 | c.6638_6641del | p.Lys2213Ilefs*15 | likely pathogenic | 1 |
| 41 | c.7809C>A | p.Cys2603* | likely pathogenic | 1 |
| 46 | c.9187A>T | p.Lys3063* | likely pathogenic | 1 |
| 49 | c.9602_9611del | p.Lys3201Ilefs*13 | pathogenic | 1 |
| 59 | c.11516del | p.Gln3839Argfs*4 | pathogenic | 1 |
| 63 | c.1139A>G | p.Tyr380Cys | likely pathogenic | 1 |
| 63 | c.13000C>T | p.Gln4334* | pathogenic | 1 |
| 63 | c.12313_12319del | p.Asp4105Serfs*7 | likely pathogenic | 1 |
| 63 | c.13272C>A | p.Cys4424* | pathogenic | 1 |