Sugi Variant

Sugi Variant/CASP2

CASP2 — 64 ClinVar variants

All ClinVar germline CASP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 45 flagged for review →

4 Pathogenic · 1 Likely pathogenic · 1 Conflicting · 2 Benign · 3 Benign/Likely benign · 9 Likely benign · 44 Uncertain significance

Full CASP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 45

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 30

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

Predictors split 14

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

All CASP2 variants

Pathogenic 4

  • c.876+1G>T Single submitter Inborn genetic diseases
  • p.Arg44Ter Single submitter Inborn genetic diseases
  • p.Gln392Ter Single submitter Inborn genetic diseases
  • p.Tyr386fs Single submitter Inborn genetic diseases

Likely pathogenic 1

  • p.His187fs Single submitter Inborn genetic diseases

Conflicting classifications of pathogenicity 1

Benign 2

Benign/Likely benign 3

Likely benign 9

Uncertain significance 44