Table 3 Bayesian likelihood for Stargardt disease.
From: Comparison of the ABC and ACMG systems for variant classification
Presence of juvenile macula dystrophy | TRUE | FALSE | NOT REPORTED |
|---|---|---|---|
Prior probability for Stargardt disease: | TRUE/FALSE | ||
Case A: Clinical picture fits with Stargardt disease in a man 40 years | 0.95 | 0.05 | 0.95/0.05 |
Case B: Other cause found for reduced vision in man 40 years | 0.01 | 0.99 | |
Conditional probabilitya for Stargardt disease: | |||
1. An ABCA4 hypomorphic Asn1868Ile variant detected | 0.10* | 0.08** | |
2. A 2nd ABCA4 loss-of-function variant NOT detected | 0.20* | 0.99 | |
3. No ABCA4 variant reported (despite finding Asn1868Ile) | 0.10*/0.91 | ||
Joint probability: | |||
Case A | 0.019 | 0.004 | 0.095/0.046 |
Case B | 0.0002 | 0.0784 | |
Posterior probability: | |||
Case A: 0.0190/(0.0190 + 0.0040) | 0.826 | 0.174 | |
Case B: 0.0002/(0.0002 + 0.0784) | 0.003 | 0.997 | |
Case if no report of Asn1868Ile (0.095/(0.095 + 0.046) | 0.67 | ||
