Sugi Variant

Sugi Variant/DUOXA2

DUOXA2 — 113 ClinVar variants

All ClinVar germline DUOXA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →

7 Pathogenic · 3 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 5 Conflicting · 21 Benign · 2 Benign/Likely benign · 19 Likely benign · 41 Uncertain significance

Full DUOXA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 42

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 3

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

Predictors lean, ClinVar uncertain 27

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 DUOXA2 variants

Pathogenic 7

  • p.Arg100fs Single submitter thyroid dyshormonogenesis 5
  • p.Arg46fs Single submitter thyroid dyshormonogenesis 5
  • p.Gln13Ter Single submitter thyroid dyshormonogenesis 5
  • p.Trp191Ter Single submitter thyroid dyshormonogenesis 5
  • p.Trp4fs Single submitter
  • p.Ala202Thr No assertion criteria thyroid dyshormonogenesis 5 ⚠
  • p.Cys167Ter No assertion criteria thyroid dyshormonogenesis 5

Pathogenic/Likely pathogenic 3

  • p.Leu32fs Multiple submitters thyroid dyshormonogenesis 5
  • p.Tyr138Ter Multiple submitters familial thyroid dyshormonogenesis
  • p.Tyr246Ter Multiple submitters familial thyroid dyshormonogenesis

Likely pathogenic 15

  • c.340+1G>A Multiple submitters thyroid dyshormonogenesis 5
  • p.Trp132Ter Multiple submitters thyroid dyshormonogenesis 5
  • p.Tyr156fs Multiple submitters thyroid dyshormonogenesis 5
  • c.147+1G>T Single submitter thyroid dyshormonogenesis 5
  • c.205+1G>A Single submitter thyroid dyshormonogenesis 5
  • c.205+1G>T Single submitter thyroid dyshormonogenesis 5
  • c.769+2T>A Single submitter thyroid dyshormonogenesis 5
  • c.770-19_780del Single submitter thyroid dyshormonogenesis 5
  • p.Glu128Ter Single submitter thyroid dyshormonogenesis 5
  • p.Gly257fs Single submitter thyroid dyshormonogenesis 5
  • p.Leu204Pro Single submitter thyroid dyshormonogenesis 5 ⚠
  • p.Lys287fs Single submitter thyroid dyshormonogenesis 5
  • p.Met1Val Single submitter thyroid dyshormonogenesis 5
  • p.Phe38fs Single submitter thyroid dyshormonogenesis 5
  • p.Trp251Ter Single submitter thyroid dyshormonogenesis 5

Conflicting classifications of pathogenicity 5

Benign 21

Benign/Likely benign 2

Likely benign 19

Uncertain significance 41