Table 2.
Number of carriers of VUS and pathogenic variants among 370 women with GDM.
| GDM (n = 370) | NC or benign, n | Carriers of VUS, n | Carriers of pathogenic variants, n | Prevalence of carriers of VUS, % (95% CI) | Prevalence of carriers of pathogenic variants, % (95% CI) |
|---|---|---|---|---|---|
| GCK | 365 | 2 | 3 | 0.5 (0.2–2.0) | 0.8 (0.3–2.4) |
| HNF1A | 361 | 8 | 1 | 2.2 (1.1–4.2) | 0.3 (0.05–1.5) |
| HNF4A | 367 | 3 | 0 | 0.8 (0.3–2.4) | 0 |
| HNF1B | 361 | 9 | 0 | 2.4 (1.3–4.6) | 0 |
| INS | 369 | 0 | 1 | 0 | 0.3 (0.05–1.5) |
| ABCC8 | 366 | 3 | 1 | 0.8 (0.3–2.4) | 0.3 (0.05–1.5) |
| KCNJ11 | 369 | 0 | 1 | 0 | 0.3 (0.05–1.5) |
| Total, specific | 340 | 25 | 7 | 6.8 (4.6–9.8) | 1.9 (0.9–3.9) |
| Total, combined | 339a | 31a | 8.4% (6.0–11.7) | ||
Legend. NC: Non-carrier. VUS: Variant of uncertain clinical significance. CI: Confidence interval.
a
One individual carried a pathogenic and a VUS and one carried a pathogenic and a benign variant.