Table 5.
Sensitivity and specificity of WFS1 genotype to predict phenotype
| Phenotype | Genotype | Sensitivity (95% CI) | Specificity (95% CI) | Positive predictive value (95% CI) | Negative predictive value (95% CI) |
|---|---|---|---|---|---|
| Wolfram syndrome | Group 1 | 79 (75, 83) | 92 (83, 97) | 98 (95, 99) | 47 (39, 55) |
| Group 2 | 21 (17, 25) | 8 (3, 17) | 53 (45, 61) | 2 (1, 5) | |
| WFS1‐related disorders (recessive form) | Group 1 | 43 (19, 70) | 32 (28, 37) | 2 (1, 5) | 95 (89, 97) |
| Group 2 | 57 (30,81) | 68 (63, 72) | 5 (3, 11) | 98 (95, 99) | |
| WFS1‐related disorders (dominant form) | Group 1 | 0 (0, 7) | 22 (18, 27) | 0 (0, 2) | 58 (50, 66) |
| Group 2 | 100 (93, 100) | 78 (73, 82) | 42 (34, 50) | 100 (98, 100) |
CI, confidence interval.
Notes: Group 1: variants predicted to cause complete or partial loss of function (N‐terminal nonsense and frameshifts, splice‐site variants predicted to cause exon skipping/deletions; C‐terminal nonsense and frameshift; N‐terminal small in‐frame deletions/duplications/insertions/indels); or compound heterozygous where one variant is predicted to cause complete and the other a partial loss of function.
Group 2: variants predicted to cause minor loss of function (missense, C‐terminal small in‐frame deletions/duplications/insertions/indels) or compound heterozygous for a variant predicted to cause partial and minor loss of function.
Sensitivity, specificity, positive predictive value, and negative predictive value was calculated using VassarStats Clinical calculator 1 (www.vassarstats.net).