Sugi Variant

Sugi Variant/PPP2R5D

PPP2R5D — 635 ClinVar variants

All ClinVar germline PPP2R5D variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 252 flagged for review →

10 Pathogenic · 7 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 28 Conflicting · 27 Benign · 7 Benign/Likely benign · 256 Likely benign · 291 Uncertain significance

Full PPP2R5D gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 252

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 17

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

Predictors lean, ClinVar uncertain 169

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 169

Predictors split 65

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

All PPP2R5D variants

Pathogenic 10

Pathogenic/Likely pathogenic 7

  • p.Arg253Pro Multiple submitters Neurodevelopmental abnormality
  • p.Asp251Ala Multiple submitters Seizure
  • p.Asp251His Multiple submitters Houge-Janssens syndrome 1
  • p.Glu197Lys Multiple submitters PPP2R5D-related disorder
  • p.Glu200Lys Multiple submitters Inborn genetic diseases
  • p.His209Tyr Multiple submitters Houge-Janssens syndrome 1
  • p.Trp207Cys Multiple submitters Houge-Janssens syndrome 1

Likely pathogenic 9

Conflicting classifications of pathogenicity 28

Benign 27

Benign/Likely benign 7

Likely benign 256

Uncertain significance 291