Sugi Variant

Sugi Variant/PDE10A

PDE10A — 300 ClinVar variants

All ClinVar germline PDE10A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 76 flagged for review →

3 Pathogenic · 2 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 4 Conflicting · 17 Benign · 10 Benign/Likely benign · 111 Likely benign · 146 Uncertain significance

Full PDE10A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 76

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 2

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

Predicted LoF vs a conflicting call 1

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 63

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

Predictors split 9

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

All PDE10A variants

Pathogenic 3

  • p.Phe600Leu Multiple submitters striatal degeneration, autosomal dominant 2
  • p.Gln859Ter Single submitter
  • p.Ala382Pro No assertion criteria infantile-onset generalized dyskinesia with orofacial involvement

Pathogenic/Likely pathogenic 2

  • p.Phe600Cys Multiple submitters infantile-onset generalized dyskinesia with orofacial involvement
  • p.Tyr373Cys No assertion criteria Global developmental delay ⚠

Likely pathogenic 7

  • p.Phe566Leu Multiple submitters infantile-onset generalized dyskinesia with orofacial involvement
  • p.Arg484Trp Single submitter infantile-onset generalized dyskinesia with orofacial involvement ⚠
  • p.Asn792fs Single submitter infantile-onset generalized dyskinesia with orofacial involvement
  • p.Gly229fs Single submitter infantile-onset generalized dyskinesia with orofacial involvement
  • p.Pro68fs Single submitter infantile-onset generalized dyskinesia with orofacial involvement
  • p.Ile932Ser No assertion criteria infantile-onset generalized dyskinesia with orofacial involvement
  • p.Ser712fs No assertion criteria infantile-onset generalized dyskinesia with orofacial involvement

Conflicting classifications of pathogenicity 4

Benign 17

Benign/Likely benign 10

Likely benign 111

Uncertain significance 146