Sugi Variant

Sugi Variant/ANO1

ANO1 — 183 ClinVar variants

All ClinVar germline ANO1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 124 flagged for review →

2 Pathogenic · 1 Likely pathogenic · 4 Benign · 2 Benign/Likely benign · 42 Likely benign · 132 Uncertain significance

Full ANO1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 124

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 lean, ClinVar uncertain 97

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

Predictors split 26

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

All ANO1 variants

Pathogenic 2

Likely pathogenic 1

  • p.Glu425Ter Single submitter ANO1-related fatal neonatal disease due to impaired chloride currents

Benign 4

Benign/Likely benign 2

Likely benign 42

Uncertain significance 132