Sugi Variant

Sugi Variant/CENPE

CENPE — 557 ClinVar variants

All ClinVar germline CENPE variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 269 flagged for review →

1 Pathogenic · 4 Likely pathogenic · 10 Conflicting · 76 Benign · 13 Benign/Likely benign · 151 Likely benign · 302 Uncertain significance

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

⚑ Evidence disagreements 269

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 8

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

Predictors lean, ClinVar uncertain 255

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 255

Predictors split 5

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

All CENPE variants

Pathogenic 1

  • p.Ala969Val Single submitter microcephaly 13, primary, autosomal recessive ⚠

Likely pathogenic 4

  • c.2132-1G>C Single submitter microcephaly 13, primary, autosomal recessive
  • p.Cys256Tyr Single submitter
  • p.Glu468fs Single submitter microcephaly 13, primary, autosomal recessive
  • p.Leu296fs Single submitter microcephaly 13, primary, autosomal recessive

Conflicting classifications of pathogenicity 10

Benign 76

Benign/Likely benign 13

Likely benign 151

Uncertain significance 302

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