Sugi Variant

Sugi Variant/ATP2C1

ATP2C1 — 280 ClinVar variants

All ClinVar germline ATP2C1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 92 flagged for review →

38 Pathogenic · 1 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 4 Conflicting · 74 Benign · 2 Benign/Likely benign · 17 Likely benign · 129 Uncertain significance

Full ATP2C1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 92

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 1

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

Predictors lean, ClinVar uncertain 56

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

Predictors split 33

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

All ATP2C1 variants

Pathogenic 38

Pathogenic/Likely pathogenic 1

  • p.Tyr452Ter Multiple submitters Hailey-Hailey disease

Likely pathogenic 15

Conflicting classifications of pathogenicity 4

Benign 74

Benign/Likely benign 2

  • c.117+7G>A Multiple submitters Hailey-Hailey disease
  • c.1570+9A>G Multiple submitters Hailey-Hailey disease

Likely benign 17

Uncertain significance 129