Sugi Variant

Sugi Variant/NR3C1

NR3C1 — 308 ClinVar variants

All ClinVar germline NR3C1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 145 flagged for review →

12 Pathogenic · 5 Likely pathogenic · 5 Conflicting · 9 Benign · 11 Benign/Likely benign · 42 Likely benign · 224 Uncertain significance

Full NR3C1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 145

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 3

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 109

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 31

The independent predictors disagree with each other — read with care.

All NR3C1 variants

Pathogenic 12

Likely pathogenic 5

Conflicting classifications of pathogenicity 5

Benign 9

Benign/Likely benign 11

  • c.1469-11_1469-8del Multiple submitters
  • c.1469-16G>T Multiple submitters glucocorticoid resistance
  • c.2182-9C>G Multiple submitters glucocorticoid resistance
  • p.Asn363Ser Multiple submitters glucocorticoid resistance
  • p.Asn766= Multiple submitters glucocorticoid resistance
  • p.Glu22= Multiple submitters glucocorticoid resistance
  • p.Lys293= Multiple submitters glucocorticoid resistance
  • p.Pro750= Multiple submitters glucocorticoid resistance
  • p.Thr299= Multiple submitters glucocorticoid resistance
  • p.Thr414= Multiple submitters glucocorticoid resistance
  • p.Thr524Ala Multiple submitters glucocorticoid resistance

Likely benign 42

Uncertain significance 224