Sugi Variant

Sugi Variant/CABP2

CABP2 — 138 ClinVar variants

All ClinVar germline CABP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 64 flagged for review →

2 Pathogenic · 1 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 7 Conflicting · 7 Benign · 2 Benign/Likely benign · 45 Likely benign · 67 Uncertain significance

Full CABP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 64

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 1

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 36

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

Predictors split 24

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

All CABP2 variants

Pathogenic 2

  • p.Arg92Ter Single submitter hearing loss, autosomal recessive
  • p.Glu78Lys No assertion criteria autosomal recessive nonsyndromic hearing loss 93 ⚠

Pathogenic/Likely pathogenic 1

  • c.637+1G>T Multiple submitters autosomal recessive nonsyndromic hearing loss 93

Likely pathogenic 7

Conflicting classifications of pathogenicity 7

Benign 7

Benign/Likely benign 2

  • p.Ala42Thr Multiple submitters
  • p.Arg63Gln Multiple submitters autosomal recessive nonsyndromic hearing loss 93

Likely benign 45

Uncertain significance 67