Sugi Variant

Sugi Variant/GSDME

GSDME — 454 ClinVar variants

All ClinVar germline GSDME variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 187 flagged for review →

6 Pathogenic · 1 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 36 Conflicting · 73 Benign · 17 Benign/Likely benign · 102 Likely benign · 215 Uncertain significance

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

⚑ Evidence disagreements 187

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 17

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

Predictors lean, ClinVar uncertain 146

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

Predictors split 23

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

All GSDME variants

Pathogenic 6

  • c.991-21TTC[2] Multiple submitters GSDME-related disorders
  • c.1183+1G>T Single submitter
  • p.Leu345fs Single submitter autosomal dominant nonsyndromic hearing loss 5
  • c.1183+4A>G No assertion criteria autosomal dominant nonsyndromic hearing loss 5
  • c.991-6C>G No assertion criteria autosomal dominant nonsyndromic hearing loss 5
  • p.Pro372fs No assertion criteria autosomal dominant nonsyndromic hearing loss 5

Pathogenic/Likely pathogenic 1

Likely pathogenic 4

Conflicting classifications of pathogenicity 36

Benign 73

Benign/Likely benign 17

  • c.1183+17A>G Multiple submitters
  • c.1183+9A>T Multiple submitters autosomal dominant nonsyndromic hearing loss 5
  • c.212-17C>T Multiple submitters
  • c.405-12T>C Multiple submitters autosomal dominant nonsyndromic hearing loss 5
  • c.576+13G>A Multiple submitters autosomal dominant nonsyndromic hearing loss 5
  • c.577-15C>T Multiple submitters autosomal dominant nonsyndromic hearing loss 5
  • c.697+17A>G Multiple submitters
  • p.Ala288= Multiple submitters autosomal dominant nonsyndromic hearing loss 5
  • p.Ala400Val Multiple submitters autosomal dominant nonsyndromic hearing loss 5
  • p.Arg450Cys Multiple submitters autosomal dominant nonsyndromic hearing loss 5
  • p.Asp204= Multiple submitters autosomal dominant nonsyndromic hearing loss 5
  • p.Asp29Glu Multiple submitters
  • p.Asp426del Multiple submitters autosomal dominant nonsyndromic hearing loss 5
  • p.Ile313= Multiple submitters autosomal dominant nonsyndromic hearing loss 5
  • p.Met174Thr Multiple submitters Inborn genetic diseases
  • p.Thr196Met Multiple submitters Inborn genetic diseases
  • p.Val176= Multiple submitters autosomal dominant nonsyndromic hearing loss 5

Likely benign 102

Uncertain significance 215