Sugi Variant

Sugi Variant/CEP55

CEP55 — 123 ClinVar variants

All ClinVar germline CEP55 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 77 flagged for review →

8 Pathogenic · 2 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 3 Conflicting · 16 Benign · 1 Benign/Likely benign · 20 Likely benign · 71 Uncertain significance

Full CEP55 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 77

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 2

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

Predictors lean, ClinVar uncertain 52

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

Predictors split 23

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

All CEP55 variants

Pathogenic 8

  • p.Arg86Ter Multiple submitters Inborn genetic diseases
  • p.Ser425Ter Multiple submitters multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
  • c.1191+2T>C Single submitter Inborn genetic diseases
  • c.993+3A>C Single submitter multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
  • p.Gln103Ter Single submitter
  • p.Gln357Ter Single submitter
  • p.Ile172fs Single submitter multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
  • p.Lys303fs Single submitter

Pathogenic/Likely pathogenic 2

  • p.Arg64Ter Multiple submitters multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
  • p.Tyr269Ter No assertion criteria CEP55-related disorder

Likely pathogenic 2

  • p.Gln183Ter Single submitter multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
  • p.Glu383Ter Single submitter Abnormality of prenatal development or birth

Conflicting classifications of pathogenicity 3

Benign 16

Benign/Likely benign 1

Likely benign 20

Uncertain significance 71