Sugi Variant

Sugi Variant/WASF1

WASF1 — 156 ClinVar variants

All ClinVar germline WASF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 95 flagged for review →

7 Pathogenic · 6 Likely pathogenic · 3 Conflicting · 35 Likely benign · 105 Uncertain significance

Full WASF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 95

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 2

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

Predictors lean, ClinVar uncertain 69

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

Predictors split 22

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

All WASF1 variants

Pathogenic 7

  • p.Arg506Ter Multiple submitters neurodevelopmental disorder with absent language and variable seizures
  • p.Glu88Ter Single submitter neurodevelopmental disorder with absent language and variable seizures
  • p.Met165fs Single submitter neurodevelopmental disorder with absent language and variable seizures
  • p.Pro492fs Single submitter neurodevelopmental disorder with absent language and variable seizures
  • p.Trp161Arg Single submitter
  • p.Gln520Ter No assertion criteria intellectual disability
  • p.Ile494fs No assertion criteria intellectual disability

Likely pathogenic 6

  • c.270_271del Single submitter neurodevelopmental disorder with absent language and variable seizures
  • p.Arg518_Glu519insTer Single submitter WASF1-related disorder
  • p.Pro475fs Single submitter neurodevelopmental disorder with absent language and variable seizures
  • p.Ser440Leu Single submitter ⚠
  • p.Ser489Ter Single submitter neurodevelopmental disorder with absent language and variable seizures
  • p.Thr301Arg Single submitter ⚠

Conflicting classifications of pathogenicity 3

  • p.Pro471Ser Single submitter Inborn genetic diseases ⚠
  • p.Thr461Ile Single submitter neurodevelopmental disorder with absent language and variable seizures ⚠
  • p.Tyr125His Single submitter Inborn genetic diseases

Likely benign 35

Uncertain significance 105