Sugi Variant

Sugi Variant/CYP19A1

CYP19A1 — 541 ClinVar variants

All ClinVar germline CYP19A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 89 flagged for review →

41 Pathogenic · 8 Pathogenic/Likely pathogenic · 34 Likely pathogenic · 14 Conflicting · 51 Benign · 270 Likely benign · 123 Uncertain significance

Full CYP19A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 89

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 1

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

Predictors agree, ClinVar conflicts 4

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

Predictors lean, ClinVar uncertain 47

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

Predictors split 37

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

All CYP19A1 variants

Pathogenic 41

Pathogenic/Likely pathogenic 8

  • c.1263+1G>A Multiple submitters aromatase deficiency
  • c.1263+1G>T Multiple submitters aromatase deficiency
  • p.Arg86Ter Multiple submitters aromatase deficiency
  • p.Gln123Ter Multiple submitters aromatase deficiency
  • p.Glu342Ter Multiple submitters aromatase deficiency
  • p.Leu353fs Multiple submitters aromatase excess syndrome
  • p.Trp224Ter Multiple submitters aromatase deficiency
  • p.Trp67Ter Multiple submitters aromatase deficiency

Likely pathogenic 34

Conflicting classifications of pathogenicity 14

Benign 51

Likely benign 270

Uncertain significance 123