Sugi Variant

Sugi Variant/DCPS

DCPS — 113 ClinVar variants

All ClinVar germline DCPS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 79 flagged for review →

2 Pathogenic · 5 Likely pathogenic · 3 Conflicting · 5 Benign · 6 Benign/Likely benign · 17 Likely benign · 75 Uncertain significance

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

⚑ Evidence disagreements 79

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 1

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

Predictors lean, ClinVar uncertain 32

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

Predictors split 46

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

All DCPS variants

Pathogenic 2

  • c.201+2T>C No assertion criteria Al-Raqad syndrome
  • c.636+1G>A No assertion criteria Al-Raqad syndrome

Likely pathogenic 5

Conflicting classifications of pathogenicity 3

Benign 5

Benign/Likely benign 6

Likely benign 17

Uncertain significance 75