Sugi Variant

Sugi Variant/WDR45B

WDR45B — 55 ClinVar variants

All ClinVar germline WDR45B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →

1 Pathogenic · 2 Likely pathogenic · 2 Conflicting · 4 Benign · 2 Benign/Likely benign · 14 Likely benign · 30 Uncertain significance

Full WDR45B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 29

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 1

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

Predictors lean, ClinVar uncertain 25

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

Predictors split 3

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

All WDR45B variants

Pathogenic 1

  • p.Gln267Ter Single submitter neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures

Likely pathogenic 2

  • p.Arg225Ter Single submitter neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
  • p.Arg34Ter No assertion criteria neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures

Conflicting classifications of pathogenicity 2

Benign 4

  • c.332+47A>T Multiple submitters neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
  • c.68-9C>T Multiple submitters
  • c.807-11T>C Multiple submitters neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
  • p.Ser249= Single submitter

Benign/Likely benign 2

  • p.Asp314= Multiple submitters neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures
  • p.Cys6Tyr Multiple submitters

Likely benign 14

Uncertain significance 30