TABLE 1.
Individuals with neurodevelopmental disorders with DNVs in the KCNC2 gene
| Sample | Publication | Sex | Autism | Epilepsy | Developmental delay or intellectual disability | Protein HGVS | SIFT prediction for variant | PolyPhen prediction for variant | CADD score (PHRED) |
|---|---|---|---|---|---|---|---|---|---|
| PB.100.p1 | Current study | F | Y | Y | Y | NP_631875.1:p.Val473Ala | deleterious(0) | Probably damaging(0.994) | 26.7 |
| PB.100.p2 | Current study | F | Y | Y | Y | NP_631875.1:p.Val473Ala | deleterious(0) | Probably damaging(0.994) | 26.7 |
| 26726 | Kaplanis et al. (2020) | NA | NA | NA | Y | NP_631875.1:p.Thr437Ala | deleterious(0) | Probably damaging(1) | 26.2 |
| 73575 | Kaplanis et al. (2020) | NA | NA | NA | Y | NP_631875.1:p.Thr464Ile | deleterious(0) | Possibly damaging(0.897) | 26.7 |
| 98034 | Kaplanis et al. (2020) | NA | NA | NA | Y | NP_631875.1:p.Thr579Met | deleterious low confidence(0.05) | Possibly damaging(0.772) | 26.9 |
| DDD13k.00707 | Kaplanis et al. (2020) | NA | NA | NA | Y | NP_631875.1:p.Val462Met | deleterious(0) | Probably damaging(0.999) | 25.8 |
| G01‐GEA‐114‐HI | Satterstrom et al. (2020) | M | Y | NA | NA | NP_631875.1:p.Gly16Asp | deleterious(0) | Probably damaging(0.999) | 26.4 |
| Patient 3 | Rademacher et al. (2020) | F | NA | Y | Y | NP_631875.1:p.Asp167Tyr | deleterious(0.01) | Possibly damaging(0.805) | 27.4 |
| Vetri_individual | Vetri et al. (2020) | M | NA | Y | Y | NP_631875.1:p.Val471Leu | deleterious(0) | Probably damaging(0.987) | 25.4 |
Abbreviations: NA, not available; Y, yes; N, no; F, female; M, male.