Sugi Variant

Sugi Variant/HINT1

HINT1 — 132 ClinVar variants

All ClinVar germline HINT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 54 flagged for review →

14 Pathogenic · 3 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 5 Conflicting · 15 Benign · 3 Benign/Likely benign · 30 Likely benign · 54 Uncertain significance

Full HINT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 54

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 4

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

Predictors lean, ClinVar uncertain 40

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

Predictors split 10

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

All HINT1 variants

Pathogenic 14

  • p.Arg37Pro Multiple submitters HINT1-related disorders
  • p.Gln106Ter Multiple submitters Gamstorp-Wohlfart syndrome
  • p.Arg95Ter Single submitter Gamstorp-Wohlfart syndrome
  • p.Gln62Ter Single submitter Inborn genetic diseases
  • p.Glu34Ter Single submitter
  • p.His51fs Single submitter
  • p.Leu53fs Single submitter Gamstorp-Wohlfart syndrome
  • p.Met1Thr Single submitter Gamstorp-Wohlfart syndrome
  • p.Phe33fs Single submitter Gamstorp-Wohlfart syndrome
  • p.Ser64fs Single submitter Gamstorp-Wohlfart syndrome
  • p.Val111fs Single submitter Gamstorp-Wohlfart syndrome
  • p.Val97_Val98insTer Single submitter Gamstorp-Wohlfart syndrome
  • p.Cys84Arg No assertion criteria Gamstorp-Wohlfart syndrome
  • p.His51Arg No assertion criteria Gamstorp-Wohlfart syndrome

Pathogenic/Likely pathogenic 3

  • p.Gly89Val Multiple submitters peripheral neuropathy
  • p.Gly93Asp Multiple submitters Gamstorp-Wohlfart syndrome
  • p.His112Asn Multiple submitters HINT1-related disorders ⚠

Likely pathogenic 8

  • p.Cys38Arg Multiple submitters Gamstorp-Wohlfart syndrome
  • c.111+2del Single submitter Gamstorp-Wohlfart syndrome
  • c.112-1del Single submitter Gamstorp-Wohlfart syndrome
  • c.112-2A>G Single submitter Gamstorp-Wohlfart syndrome
  • p.Phe33Ser Single submitter HINT1-related disorders
  • p.Val97Met Single submitter Gamstorp-Wohlfart syndrome
  • p.Asp70Gly No assertion criteria Sensory axonal neuropathy
  • p.Gly93Val No assertion criteria Gamstorp-Wohlfart syndrome

Conflicting classifications of pathogenicity 5

Benign 15

Benign/Likely benign 3

  • p.His110= Multiple submitters Inborn genetic diseases
  • p.Leu39= Multiple submitters Inborn genetic diseases
  • p.Leu53= Multiple submitters Inborn genetic diseases

Likely benign 30

Uncertain significance 54