Sugi Variant

Sugi Variant/AQP5

AQP5 — 89 ClinVar variants

All ClinVar germline AQP5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →

4 Pathogenic · 1 Likely pathogenic · 5 Conflicting · 21 Benign · 11 Likely benign · 47 Uncertain significance

Full AQP5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 50

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 4

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

Predictors lean, ClinVar uncertain 33

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

Predictors split 11

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

All AQP5 variants

Pathogenic 4

  • p.Ala38Glu Multiple submitters AQP5-related disorder ⚠
  • p.Asn123Asp No assertion criteria palmoplantar keratoderma, Bothnian type ⚠
  • p.Ile177Phe No assertion criteria palmoplantar keratoderma, Bothnian type
  • p.Ile45Ser No assertion criteria palmoplantar keratoderma, Bothnian type

Likely pathogenic 1

  • p.Gly176Arg Single submitter palmoplantar keratoderma, Bothnian type

Conflicting classifications of pathogenicity 5

Benign 21

Likely benign 11

Uncertain significance 47