Sugi Variant

Sugi Variant/HSF4

HSF4 — 205 ClinVar variants

All ClinVar germline HSF4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 102 flagged for review →

12 Pathogenic · 10 Likely pathogenic · 7 Conflicting · 16 Benign · 7 Benign/Likely benign · 35 Likely benign · 118 Uncertain significance

Full HSF4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 102

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 5

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

Predictors lean, ClinVar uncertain 77

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

Predictors split 19

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

All HSF4 variants

Pathogenic 12

  • p.Pro323fs Multiple submitters cataract 5 multiple types
  • c.627-2A>G Single submitter cataract 5 multiple types
  • p.Arg119Cys Single submitter HSF4-related disorder
  • p.Arg405Ter Single submitter cataract 5 multiple types
  • p.Asp30fs Single submitter cataract 5 multiple types
  • p.Gln180fs Single submitter cataract 5 multiple types
  • p.Gln190Ter Single submitter cataract 5 multiple types
  • p.Glu425fs Single submitter cataract 5 multiple types
  • p.Lys23Asn Single submitter cataract 5 multiple types
  • p.Trp131Ter Single submitter cataract 5 multiple types
  • p.Ala19Asp No assertion criteria cataract 5 multiple types
  • p.Ile86Val No assertion criteria cataract 5 multiple types ⚠

Likely pathogenic 10

Conflicting classifications of pathogenicity 7

Benign 16

  • c.123+9C>T Multiple submitters cataract 5 multiple types
  • c.124-66C>G Multiple submitters
  • c.-223C>T Multiple submitters cataract 5 multiple types
  • c.-832G>A Multiple submitters cataract 5 multiple types
  • c.-880G>C Multiple submitters cataract 5 multiple types
  • c.-944G>A Multiple submitters cataract 5 multiple types
  • p.Ile472Val Multiple submitters cataract 5 multiple types
  • c.-125C>T Single submitter cataract 5 multiple types
  • c.-23C>T Single submitter cataract 5 multiple types
  • c.-565G>A Single submitter cataract 5 multiple types ⚠
  • c.-622G>C Single submitter cataract 5 multiple types
  • c.-772G>T Single submitter cataract 5 multiple types ⚠
  • c.*8C>T Single submitter cataract 5 multiple types
  • p.Arg116His Single submitter cataract 5 multiple types
  • p.Gly465= Single submitter cataract 5 multiple types
  • p.Pro492His Single submitter cataract 5 multiple types

Benign/Likely benign 7

  • c.561+4T>G Multiple submitters cataract 5 multiple types
  • c.627-11C>T Multiple submitters cataract 5 multiple types
  • c.*89G>T Multiple submitters cataract 5 multiple types
  • p.Leu21= Multiple submitters cataract 5 multiple types
  • p.Leu447= Multiple submitters cataract 5 multiple types
  • p.Met212Ile Multiple submitters cataract 5 multiple types ⚠
  • p.Pro492= Multiple submitters cataract 5 multiple types

Likely benign 35

Uncertain significance 118