Sugi Variant

Sugi Variant/PDE8B

PDE8B — 364 ClinVar variants

All ClinVar germline PDE8B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 139 flagged for review →

7 Pathogenic · 3 Likely pathogenic · 9 Conflicting · 34 Benign · 16 Benign/Likely benign · 121 Likely benign · 174 Uncertain significance

Full PDE8B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 139

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 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 5

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

Predictors lean, ClinVar uncertain 111

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

Predictors split 21

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

All PDE8B variants

Pathogenic 7

Likely pathogenic 3

  • p.Arg426Ter Single submitter autosomal dominant striatal neurodegeneration type 1
  • p.Glu102Ter Single submitter autosomal dominant striatal neurodegeneration type 1
  • p.Lys778Ter Single submitter

Conflicting classifications of pathogenicity 9

  • c.339+8C>A Single submitter
  • p.Ala224Val Single submitter ⚠
  • p.Ala52= Single submitter autosomal dominant striatal neurodegeneration type 1
  • p.Ala83Pro Single submitter Inborn genetic diseases ⚠
  • p.Arg266Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg437Cys Single submitter autosomal dominant striatal neurodegeneration type 1 ⚠
  • p.Ser198Leu Single submitter Inborn genetic diseases ⚠
  • p.Thr333= Single submitter autosomal dominant striatal neurodegeneration type 1
  • p.Tyr713= Single submitter autosomal dominant striatal neurodegeneration type 1

Benign 34

  • c.*1128A>G Multiple submitters autosomal dominant striatal neurodegeneration type 1
  • c.*437A>G Multiple submitters autosomal dominant striatal neurodegeneration type 1
  • c.*480T>G Multiple submitters autosomal dominant striatal neurodegeneration type 1
  • c.*512T>C Multiple submitters autosomal dominant striatal neurodegeneration type 1
  • c.*516A>G Multiple submitters autosomal dominant striatal neurodegeneration type 1
  • c.*57C>T Multiple submitters autosomal dominant striatal neurodegeneration type 1
  • c.*63C>T Multiple submitters autosomal dominant striatal neurodegeneration type 1
  • c.*64G>A Multiple submitters autosomal dominant striatal neurodegeneration type 1
  • c.*70C>T Multiple submitters autosomal dominant striatal neurodegeneration type 1
  • p.Arg121His Multiple submitters autosomal dominant striatal neurodegeneration type 1
  • p.Asp21= Multiple submitters autosomal dominant striatal neurodegeneration type 1
  • p.Asp641Asn Multiple submitters autosomal dominant striatal neurodegeneration type 1
  • p.Glu588= Multiple submitters autosomal dominant striatal neurodegeneration type 1
  • p.His184= Multiple submitters autosomal dominant striatal neurodegeneration type 1
  • p.Ile423Val Multiple submitters autosomal dominant striatal neurodegeneration type 1
  • p.Pro499= Multiple submitters
  • p.Ser145= Multiple submitters autosomal dominant striatal neurodegeneration type 1
  • p.Ser286= Multiple submitters autosomal dominant striatal neurodegeneration type 1
  • c.1107-18C>T Single submitter
  • c.2419-8del Single submitter
  • c.339+40123C>T Single submitter
  • c.798-13T>C Single submitter
  • c.-23G>T Single submitter autosomal dominant striatal neurodegeneration type 1
  • c.*1213C>T Single submitter autosomal dominant striatal neurodegeneration type 1
  • c.*1575G>A Single submitter autosomal dominant striatal neurodegeneration type 1
  • c.*1590T>A Single submitter autosomal dominant striatal neurodegeneration type 1
  • c.*341C>T Single submitter autosomal dominant striatal neurodegeneration type 1
  • c.*439C>T Single submitter autosomal dominant striatal neurodegeneration type 1
  • c.*456A>G Single submitter autosomal dominant striatal neurodegeneration type 1
  • c.*496A>G Single submitter autosomal dominant striatal neurodegeneration type 1
  • c.*648T>G Single submitter autosomal dominant striatal neurodegeneration type 1
  • c.*741A>T Single submitter autosomal dominant striatal neurodegeneration type 1
  • p.Asn461= Single submitter
  • p.Gly352= Single submitter

Benign/Likely benign 16

  • c.1289-8C>T Multiple submitters
  • c.1366-5G>A Multiple submitters autosomal dominant striatal neurodegeneration type 1
  • c.400-7G>T Multiple submitters autosomal dominant striatal neurodegeneration type 1
  • c.591-7A>G Multiple submitters autosomal dominant striatal neurodegeneration type 1
  • p.Ala224= Multiple submitters autosomal dominant striatal neurodegeneration type 1
  • p.Ala566= Multiple submitters autosomal dominant striatal neurodegeneration type 1
  • p.Arg710= Multiple submitters autosomal dominant striatal neurodegeneration type 1
  • p.Asp755Asn Multiple submitters autosomal dominant striatal neurodegeneration type 1
  • p.Cys758= Multiple submitters autosomal dominant striatal neurodegeneration type 1
  • p.Glu520= Multiple submitters autosomal dominant striatal neurodegeneration type 1
  • p.Glu685= Multiple submitters autosomal dominant striatal neurodegeneration type 1
  • p.Leu433= Multiple submitters autosomal dominant striatal neurodegeneration type 1
  • p.Leu874= Multiple submitters autosomal dominant striatal neurodegeneration type 1
  • p.Lys745= Multiple submitters autosomal dominant striatal neurodegeneration type 1
  • p.Thr384= Multiple submitters autosomal dominant striatal neurodegeneration type 1
  • p.Thr715= Multiple submitters autosomal dominant striatal neurodegeneration type 1

Likely benign 121

Uncertain significance 174