Sugi Variant

Sugi Variant/ATP5F1A

ATP5F1A — 289 ClinVar variants

All ClinVar germline ATP5F1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 127 flagged for review →

1 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 11 Conflicting · 49 Benign · 7 Benign/Likely benign · 88 Likely benign · 129 Uncertain significance

Full ATP5F1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 127

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 7

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

Predictors lean, ClinVar uncertain 74

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

Predictors split 46

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

All ATP5F1A variants

Pathogenic 1

  • p.Tyr321Cys No assertion criteria combined oxidative phosphorylation deficiency 22

Pathogenic/Likely pathogenic 1

Likely pathogenic 3

  • c.1176+1G>C Multiple submitters combined oxidative phosphorylation deficiency 22
  • p.Gly418Arg Multiple submitters ATP5F1A-related disorder
  • p.Leu109Phe Single submitter Inborn genetic diseases

Conflicting classifications of pathogenicity 11

Benign 49

Benign/Likely benign 7

Likely benign 88

Uncertain significance 129