Sugi Variant

Sugi Variant/DCT

DCT — 93 ClinVar variants

All ClinVar germline DCT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 76 flagged for review →

5 Pathogenic · 4 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 2 Benign · 5 Likely benign · 75 Uncertain significance

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

⚑ Evidence disagreements 76

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 lean, ClinVar uncertain 35

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

Predictors split 41

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

All DCT variants

Pathogenic 5

  • p.Arg326Ter Single submitter oculocutaneous albinism type 8
  • p.Trp71Ter Single submitter oculocutaneous albinism type 8
  • p.Gly59Val No assertion criteria oculocutaneous albinism type 8
  • p.Trp469Ter No assertion criteria oculocutaneous albinism type 8
  • p.Tyr292Ter No assertion criteria oculocutaneous albinism type 8

Pathogenic/Likely pathogenic 4

Likely pathogenic 2

Benign 2

Likely benign 5

Uncertain significance 75