Sugi Variant

Sugi Variant/DNASE1L3

DNASE1L3 — 275 ClinVar variants

All ClinVar germline DNASE1L3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 123 flagged for review →

5 Pathogenic · 4 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 5 Conflicting · 11 Benign · 5 Benign/Likely benign · 108 Likely benign · 130 Uncertain significance

Full DNASE1L3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 123

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 3

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

Predictors lean, ClinVar uncertain 70

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

Predictors split 50

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

All DNASE1L3 variants

Pathogenic 5

Pathogenic/Likely pathogenic 4

  • p.Asp148fs Multiple submitters autosomal systemic lupus erythematosus type 16
  • p.Ile54fs Multiple submitters autosomal systemic lupus erythematosus type 16
  • p.Thr97fs Multiple submitters DNASE1L3-related disorder
  • p.Tyr106fs Multiple submitters autosomal systemic lupus erythematosus type 16

Likely pathogenic 7

Conflicting classifications of pathogenicity 5

Benign 11

Benign/Likely benign 5

  • p.Ala181= Multiple submitters autosomal systemic lupus erythematosus type 16
  • p.Asn96Lys Multiple submitters ⚠
  • p.Glu167= Multiple submitters autosomal systemic lupus erythematosus type 16
  • p.Gly82Arg Multiple submitters ⚠
  • p.Leu71= Multiple submitters autosomal systemic lupus erythematosus type 16

Likely benign 108

Uncertain significance 130