Sugi Variant

Sugi Variant/ACER3

ACER3 — 109 ClinVar variants

All ClinVar germline ACER3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →

5 Pathogenic · 1 Likely pathogenic · 1 Conflicting · 12 Benign · 29 Likely benign · 61 Uncertain significance

Full ACER3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 55

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 1

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

Predictors lean, ClinVar uncertain 38

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

Predictors split 16

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

All ACER3 variants

Pathogenic 5

  • p.Arg203Ter Single submitter alkaline ceramidase 3 deficiency
  • p.Gln146Ter Single submitter ACER3-related disorder
  • p.Gly211Cys Single submitter alkaline ceramidase 3 deficiency
  • p.Ser235Arg Single submitter alkaline ceramidase 3 deficiency ⚠
  • p.Trp189Ter No assertion criteria alkaline ceramidase 3 deficiency

Likely pathogenic 1

  • p.Arg159Ter Single submitter alkaline ceramidase 3 deficiency

Conflicting classifications of pathogenicity 1

Benign 12

Likely benign 29

Uncertain significance 61