Table 3.
In silico pathogenicity analysis of novel RB1 variants.
| Patient ID | cDNA position | Mutation type | SIFT | PolyPhen-2 | PROVEAN | Mutation taster | ClinPred | Human splicing finder | MaxEntScan | ACMG |
|---|---|---|---|---|---|---|---|---|---|---|
| RB-0048 | c.1100A>G | p.N367S | Tolerable | Benign | Tolerable | Polymorphism | Benign | Cryptic donor activated | Cryptic donor activated | VUS |
| RB-0100 | c.1318G>A | p.E440K | Tolerable | Benign | Tolerable | Disease-causing | Pathogenic | VUS | ||
| RB-0123 | c.1322T>C | p.I441T | Tolerable | Benign | Damaging | Disease-causing | Pathogenic | VUS | ||
| RB-0134 | c.1797T>A | p.N599K | Damaging | Benign | Tolerable | Disease-causing | Pathogenic | VUS | ||
| RB-0131 | c.2260G>A | p.V754I | Tolerable | Benign | Tolerable | Disease-causing | Pathogenic | VUS | ||
| RB-0143 | c.2410A>G | p.I804V | Tolerable | Benign | Tolerable | Disease-causing | Pathogenic | VUS | ||
| RB-0023 | c.264+2T>A | Splicing | Broken WT | Broken splice site | P | |||||
| RB-0087 | c.862-2A>T | Splicing | Broken WT | Broken splice site | P | |||||
| RB-0114 | c.2490-22_92del | Splicing | VUS | |||||||
| RB-0065 | c.2490-1470 G>A | Splicing | Produces new acceptor | VUS |
WT, wild type; P, pathogenic; VUS, variants of uncertain significance.