Table 3.
In-silico prediction analysis of variants identified in patients with 46,XY GD.
| Patient | Gene | Nucleotide change | AA change | In-silico prediction tools | ACMG criteria (2019) | |||
|---|---|---|---|---|---|---|---|---|
| SIFT | PolyPhen-2 | MutationTaster | REVEL | |||||
| 1, 2 | GATA4 | c.725G>C | p.Cys242Ser | Damaging | Probably damaging | Disease-causing | Deleterious | VUS |
| 1, 2 | LHCGR | c.52_c.53insTGC | p.Leu17dup | – | – | Polymorphism | – | VUS |
| 3 | MAP3K1 | c.1016G>A | p.Arg339Gln | Damaging | Probably damaging | Disease-causing | Deleterious | VUS |
| 4 | DHX37 | c.2020C>T | p.Arg674Trp | Damaging | Probably damaging | Disease-causing | Deleterious | VUS |
| 5, 6 | NR5A1 | c.370_380del | p.Pro124Glyfs*21 | – | – | – | – | LP |
SIFT, Sorting Intolerant from Tolerant; VUS, variant of uncertain significance; LP, likely pathogenic.