Sugi Variant

Sugi Variant/PPFIA3

PPFIA3 — 186 ClinVar variants

All ClinVar germline PPFIA3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 140 flagged for review →

4 Pathogenic · 2 Pathogenic/Likely pathogenic · 13 Likely pathogenic · 1 Conflicting · 2 Benign · 15 Likely benign · 149 Uncertain significance

Full PPFIA3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 140

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 4

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 103

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

Predictors split 32

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

All PPFIA3 variants

Pathogenic 4

  • p.Arg778Ter Multiple submitters PAUL-CHAO NEURODEVELOPMENTAL SYNDROME
  • p.Leu196fs Single submitter PPFIA3-associated neurodevelopmental disorder
  • p.Ser903fs Single submitter
  • p.Arg784Trp No assertion criteria PPFIA3-related disorder ⚠

Pathogenic/Likely pathogenic 2

Likely pathogenic 13

Conflicting classifications of pathogenicity 1

Benign 2

Likely benign 15

Uncertain significance 149