Sugi Variant

Sugi Variant/CAPN5

CAPN5 — 687 ClinVar variants

All ClinVar germline CAPN5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 353 flagged for review →

3 Pathogenic · 15 Conflicting · 36 Benign · 3 Benign/Likely benign · 235 Likely benign · 395 Uncertain significance

Full CAPN5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 353

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 5

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

Predictors lean, ClinVar uncertain 170

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 170

Predictors split 177

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 177

All CAPN5 variants

Pathogenic 3

  • p.Arg243Leu Multiple submitters CAPN5-related vitreoretinopathy ⚠
  • p.Arg289Trp Multiple submitters proliferative vitreoretinopathy ⚠
  • p.Leu244Pro Single submitter proliferative vitreoretinopathy

Conflicting classifications of pathogenicity 15

Benign 36

Benign/Likely benign 3

  • p.Leu268= Multiple submitters
  • p.Leu632Ile Multiple submitters proliferative vitreoretinopathy
  • p.Pro45= Multiple submitters Inborn genetic diseases

Likely benign 235

Uncertain significance 395

Showing the top 300 by review status; the full set is in the sitemap.