Sugi Variant

Sugi Variant/SCP2

SCP2 — 503 ClinVar variants

All ClinVar germline SCP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 166 flagged for review →

16 Pathogenic · 2 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 14 Conflicting · 41 Benign · 4 Benign/Likely benign · 226 Likely benign · 192 Uncertain significance

Full SCP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 166

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 3

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

Predictors lean, ClinVar uncertain 121

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

Predictors split 42

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

All SCP2 variants

Pathogenic 16

Pathogenic/Likely pathogenic 2

  • c.588dup Multiple submitters sterol carrier protein 2 deficiency
  • c.825+1G>T Multiple submitters SCP2-related disorder

Likely pathogenic 8

Conflicting classifications of pathogenicity 14

Benign 41

Benign/Likely benign 4

Likely benign 226

Uncertain significance 192