Sugi Variant

Sugi Variant/NT5E

NT5E — 115 ClinVar variants

All ClinVar germline NT5E variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 84 flagged for review →

2 Pathogenic · 3 Likely pathogenic · 1 Conflicting · 8 Benign · 1 Benign/Likely benign · 15 Likely benign · 85 Uncertain significance

Full NT5E gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 84

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 67

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 NT5E variants

Pathogenic 2

  • p.Cys358Tyr No assertion criteria hereditary arterial and articular multiple calcification syndrome
  • p.Ser221Ter No assertion criteria hereditary arterial and articular multiple calcification syndrome

Likely pathogenic 3

  • p.Val537fs Multiple submitters NT5E-related disorder
  • c.1104+2T>A Single submitter hereditary arterial and articular multiple calcification syndrome
  • p.Cys476Ter Single submitter NT5E-related disorder

Conflicting classifications of pathogenicity 1

  • p.Val278Ile Single submitter hereditary arterial and articular multiple calcification syndrome ⚠

Benign 8

Benign/Likely benign 1

Likely benign 15

Uncertain significance 85