Table 2.
Novel pathogenic variants identified and their predicted pathogenicity
| Gene | Sequence variation | gnomAD Allele Frequency | VEP | SIFT | PolyPhen-2 | Mutation Taster | ||
|---|---|---|---|---|---|---|---|---|
| cDNA | Protein | SIFT | PolyPhen | |||||
| MC2R | c.243delT | p.N81Kfs*3 | nd | Frameshift | na | na | Disease causing | |
| c.671T > G | p.L224R | 4/282270 | 0 | 0.945 | 0 | 0.995 | Disease causing | |
| NR0B1 | c.1343T > C | p.F448S | nd | 0 | 0.8 | 0.001 | 0.981 | Disease causing |
| AAAS | c.525_545 + 4dupCCGTGTGTA TAATGCCAGCAGGTGT | na | 3/281760 | Splice defect | na | na | Disease causing | |
| c.689 + 1G > C | na | nd | Splice donor | na | na | Disease causing | ||
| NNT | c.599 + 2T > C | na | nd | Splice donor | na | na | Disease causing | |
| c.764G > A | p.G255E | nd | 0 | 0.988 | 0.001 | 0.999 | Disease causing | |
| MRAP | c.82G > A | p.E28K | 3/251322 | 0.04 | 0.998 | 0.071 | 1 | Disease causing |
| STAR | c.28G > A | p.A10T | nd | 0.01 | 0.503 | 0.014 | 0.95 | Disease causing |
| c.602G > A | p.G201D | 3/282724 | 0 | 0.944 | 0 | 0.992 | Disease causing | |
| c.666delC | p.T223Lfs*98 | nd | Frameshift | na | na | Disease causing |
Abbreviations: na, not applicable; nd, not detected; VEP, Ensembl Variant Effect Predictor.