Sugi Variant

Sugi Variant/ATP11A

ATP11A — 279 ClinVar variants

All ClinVar germline ATP11A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 187 flagged for review →

4 Pathogenic · 2 Likely pathogenic · 7 Conflicting · 16 Benign · 6 Benign/Likely benign · 41 Likely benign · 203 Uncertain significance

Full ATP11A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 187

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 1

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

Predictors lean, ClinVar uncertain 105

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

Predictors split 80

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

All ATP11A variants

Pathogenic 4

  • c.334-8T>G Single submitter hearing loss, autosomal dominant 84
  • c.3322_3327+2dup No assertion criteria hearing loss, autosomal dominant 84
  • p.Gln84Glu No assertion criteria leukodystrophy, hypomyelinating, 24
  • p.Ser4Asn No assertion criteria hearing loss, autosomal dominant 84 ⚠

Likely pathogenic 2

  • p.Ser399Leu Single submitter leukodystrophy, hypomyelinating, 24
  • p.Thr1015fs Single submitter hearing loss, autosomal dominant 84

Conflicting classifications of pathogenicity 7

Benign 16

Benign/Likely benign 6

Likely benign 41

Uncertain significance 203