Sugi Variant

Sugi Variant/ANO4

ANO4 — 100 ClinVar variants

All ClinVar germline ANO4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 93 flagged for review →

6 Pathogenic · 1 Likely pathogenic · 1 Benign · 1 Likely benign · 91 Uncertain significance

Full ANO4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 93

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 lean, ClinVar uncertain 55

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

Predictors split 36

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

All ANO4 variants

Pathogenic 6

  • p.Asn129Lys Single submitter developmental and epileptic encephalopathy ⚠
  • p.Asn558Lys Single submitter developmental and epileptic encephalopathy
  • p.Asn603Asp Single submitter developmental and epileptic encephalopathy
  • p.Ile562Phe Single submitter developmental and epileptic encephalopathy
  • p.Met563Lys Single submitter developmental and epileptic encephalopathy
  • p.Val528Met Single submitter generalized epilepsy with febrile seizures plus ⚠

Likely pathogenic 1

  • p.Ile725Thr No assertion criteria temporal lobe epilepsy

Benign 1

Likely benign 1

Uncertain significance 91