Table 1.
Pan-gene VRMV likelihood ratios for SDHB and SDHD
| Gene | VRMVs (all) |
VRMVs (Recurrent Pathogenic Founder Variants Excluded) |
|||||
|---|---|---|---|---|---|---|---|
| PCC/PGL | Population Controls | Positive Likelihood Ratio | PCC/PGL | Population Controls | Positive Likelihood Ratio | ||
| SDHB | VRMV present | 366 | 39 | 76.2 (54.8-105.9) | 156 | 38 | 34.5 (24.2-49.1) |
| VRMV absent | 5962 | 51,338 | 5962 | 51,338 | |||
| Total | 6328 | 51,377 | 6118 | 51,376 | |||
| SDHD | VRMV present | 37 | 22 | 14.8 (8.7-25.0) | 37 | 22 | 14.8 (8.7-25.0) |
| VRMV absent | 5810 | 51,355 | 5810 | 51,355 | |||
| Total | 5847 | 51,377 | 5847 | 51,377 | |||
Frequency in cases of PCC/PGL and population controls (gnomAD v2.1.1 [non-cancer]NFE) of VRMVs in SDHB and SDHD for (1) all VRMVs and (2) VRMVs excluding recurrent founder pathogenic variants.
NFE, non-Finnish European; PCC/PGL, pheochromocytoma and paraganglioma; VRMV, very rare missense variant.