Sugi Variant

Sugi Variant/DYM

DYM — 376 ClinVar variants

All ClinVar germline DYM variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 149 flagged for review →

31 Pathogenic · 7 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 13 Conflicting · 39 Benign · 6 Benign/Likely benign · 115 Likely benign · 150 Uncertain significance

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

⚑ Evidence disagreements 149

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 2

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

Predictors lean, ClinVar uncertain 94

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

Predictors split 52

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

All DYM variants

Pathogenic 31

Pathogenic/Likely pathogenic 7

  • c.1728+2T>C Multiple submitters Dyggve-Melchior-Clausen disease
  • c.947-2A>G Multiple submitters DYM-related disorder
  • p.Arg428Ter Multiple submitters Dyggve-Melchior-Clausen disease
  • p.Arg70Ter Multiple submitters Dyggve-Melchior-Clausen disease
  • p.Gln306Ter Multiple submitters early-onset non-syndromic cataract
  • p.Lys681fs Multiple submitters Dyggve-Melchior-Clausen disease
  • p.Tyr132Ter Multiple submitters Inborn genetic diseases

Likely pathogenic 15

Conflicting classifications of pathogenicity 13

Benign 39

Benign/Likely benign 6

  • p.Asp724= Multiple submitters
  • p.Leu107= Multiple submitters connective tissue disorder
  • p.Leu114= Multiple submitters connective tissue disorder
  • p.Leu573= Multiple submitters
  • p.Ser141Gly Multiple submitters connective tissue disorder ⚠
  • p.Val638= Multiple submitters connective tissue disorder

Likely benign 115

Uncertain significance 150