Sugi Variant

Sugi Variant/ATP13A3

ATP13A3 — 300 ClinVar variants

All ClinVar germline ATP13A3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 145 flagged for review →

5 Pathogenic · 2 Likely pathogenic · 7 Conflicting · 44 Benign · 11 Benign/Likely benign · 83 Likely benign · 148 Uncertain significance

Full ATP13A3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 145

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 agree, ClinVar conflicts 4

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

Predicted LoF vs a conflicting call 2

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 123

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

Predictors split 16

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

All ATP13A3 variants

Pathogenic 5

Likely pathogenic 2

  • p.Arg743Cys Multiple submitters pulmonary arterial hypertension
  • p.Val855Met Single submitter pulmonary arterial hypertension

Conflicting classifications of pathogenicity 7

Benign 44

Benign/Likely benign 11

Likely benign 83

Uncertain significance 148