Sugi Variant

Sugi Variant/CERS3

CERS3 — 155 ClinVar variants

All ClinVar germline CERS3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 48 flagged for review →

7 Pathogenic · 14 Likely pathogenic · 5 Conflicting · 46 Benign · 3 Benign/Likely benign · 32 Likely benign · 48 Uncertain significance

Full CERS3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 48

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 4

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

Predictors lean, ClinVar uncertain 31

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

Predictors split 13

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

All CERS3 variants

Pathogenic 7

Likely pathogenic 14

  • c.466-1G>T Multiple submitters autosomal recessive congenital ichthyosis 9
  • p.Arg75Ter Multiple submitters Abnormality of the skin
  • c.1000-1G>C Single submitter Ichthyosis and erythrokeratoderma
  • c.174-2A>G Single submitter
  • c.465+1G>A Single submitter CERS3-related disorder
  • c.465+2T>G Single submitter
  • c.609+1G>T Single submitter ichthyosis
  • p.Asn305Lys Single submitter Abnormality of the skin
  • p.Gln336Ter Single submitter Ichthyosis and erythrokeratoderma
  • p.Gly149Arg Single submitter CERS3-related disorder
  • p.Leu102fs Single submitter autosomal recessive congenital ichthyosis 9
  • p.Leu16fs Single submitter autosomal recessive congenital ichthyosis 9
  • p.Met292fs Single submitter autosomal recessive congenital ichthyosis 9
  • p.Tyr189fs Single submitter autosomal recessive congenital ichthyosis 9

Conflicting classifications of pathogenicity 5

Benign 46

Benign/Likely benign 3

Likely benign 32

Uncertain significance 48