Table 1.
Previous reports of germline PTCH2 variants associated with GS phenotype
| Family or single case | Meets criteria | Variant | ACMGa classification | gnomAD frequency | |
|---|---|---|---|---|---|
| Casano et al. [7] | Family | No | c.3347C > T; p.(Pro1116Leu) | 3 (Uncertain significance) | 2/247660 (8.08e−6) |
| Fujii et al. [8] | Case | No | c.1172_1173delCT; p.Ser391a | 2/3 (Likely benign/uncertain significance) | 64/282846 (2.26e−4) (includes 1 homozygote) |
| Fan et al. [5] | Family | Yes | c.2157G > A; p.Arg719Gln | 3 (Uncertain significance) | 8/281616 (2.84e−5) |
| Xu et al. [6] | Unclear | Unclear | c.311 T > C, p.Leu104Pro | 2 (Likely benign) | 73/282696 (2.58e−4) (includes 1 homozygote) |
| Xu et al. [6] | Unclear | Unclear | c.1307C > T, p.Ala436Val | 3 (Uncertain significance) | 18/280892 (6.41e−5) |
aAmerican College of Medical Genetics guidelines for variant classification[11]