DNASE1 — 75 ClinVar variants
All ClinVar germline DNASE1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 45 flagged for review →
1 Likely pathogenic · 4 Conflicting · 7 Benign · 3 Benign/Likely benign · 14 Likely benign · 46 Uncertain significance
Full DNASE1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 45
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DNASE1 p.Val21Met Uncertain significance Multiple submitters
- DNASE1 p.Ala162Val Uncertain significance Single submitter
- DNASE1 p.Ala193Val Uncertain significance Single submitter
- DNASE1 p.Ala27Val Uncertain significance Single submitter
-
DNASE1 p.Arg133Gln
Uncertain significance
Single submitter
systemic lupus erythematosus
- DNASE1 p.Arg133Leu Uncertain significance Single submitter
- DNASE1 p.Asp109His Uncertain significance Single submitter
-
DNASE1 p.Asp129Asn
Uncertain significance
Single submitter
systemic lupus erythematosus
- DNASE1 p.Gln18Pro Uncertain significance Single submitter
- DNASE1 p.Gln60Arg Uncertain significance Single submitter
- DNASE1 p.Gly160Arg Uncertain significance Single submitter
- DNASE1 p.Gly194Asp Uncertain significance Single submitter
- DNASE1 p.Gly3Asp Uncertain significance Single submitter
- DNASE1 p.Gly71Arg Uncertain significance Single submitter
- DNASE1 p.Gly94Arg Uncertain significance Single submitter
- DNASE1 p.Met4Val Uncertain significance Single submitter
- DNASE1 p.Pro125Ser Uncertain significance Single submitter
- DNASE1 p.Thr224Pro Uncertain significance Single submitter
- DNASE1 p.Thr32Ala Uncertain significance Single submitter
- DNASE1 p.Val21Ala Uncertain significance Single submitter
- DNASE1 p.Val238Ile Uncertain significance Single submitter
-
DNASE1 p.Val277Ala
Uncertain significance
Single submitter
systemic lupus erythematosus
-
DNASE1 p.Asn78Thr
Uncertain significance
No assertion criteria
DNASE1-related disorder
Predictors split 21
The independent predictors disagree with each other — read with care.
- DNASE1 p.Arg244Gln Benign Multiple submitters
- DNASE1 p.Asn40Ser Uncertain significance Multiple submitters
-
DNASE1 p.Gly127Arg
Benign/Likely benign
Multiple submitters
systemic lupus erythematosus
- DNASE1 p.Tyr117Ser Benign Multiple submitters
- DNASE1 p.Ala164Val Uncertain significance Single submitter
-
DNASE1 p.Arg207Cys
Conflicting
Single submitter
systemic lupus erythematosus
-
DNASE1 p.Arg207His
Uncertain significance
Single submitter
systemic lupus erythematosus
- DNASE1 p.Arg2Trp Uncertain significance Single submitter
- DNASE1 p.Arg53His Uncertain significance Single submitter
- DNASE1 p.Asp167Asn Uncertain significance Single submitter
- DNASE1 p.Gln202His Uncertain significance Single submitter
- DNASE1 p.Glu124Gln Uncertain significance Single submitter
- DNASE1 p.Gly8Glu Uncertain significance Single submitter
- DNASE1 p.Ile137Thr Uncertain significance Single submitter
- DNASE1 p.Pro154Ala Benign Single submitter
- DNASE1 p.Pro219Ser Uncertain significance Single submitter
- DNASE1 p.Thr224Ser Uncertain significance Single submitter
- DNASE1 p.Thr229Met Uncertain significance Single submitter
- DNASE1 p.Thr229Pro Uncertain significance Single submitter
- DNASE1 p.Val147Ile Conflicting Single submitter
- DNASE1 p.Val247Ala Uncertain significance Single submitter
All DNASE1 variants
Likely pathogenic 1
- p.Gln31Ter Single submitter systemic lupus erythematosus
Conflicting classifications of pathogenicity 4
- p.Arg107Gly Single submitter ⚠
- p.Arg207Cys Single submitter systemic lupus erythematosus ⚠
- p.Pro249= Single submitter
- p.Val147Ile Single submitter ⚠
Benign 7
- p.Arg244Gln Multiple submitters ⚠
- p.Leu208= Multiple submitters
- p.Tyr117Ser Multiple submitters ⚠
- c.704+67G>C Single submitter
- p.Arg2Ser Single submitter
- p.Pro154Ala Single submitter ⚠
- p.Val176= Single submitter
Benign/Likely benign 3
- p.Glu35Asp Multiple submitters
- p.Gly127Arg Multiple submitters systemic lupus erythematosus ⚠
- p.Gly189= Multiple submitters
Likely benign 14
- p.Glu100= Multiple submitters
- p.Val185Ile Multiple submitters
- c.437-19G>C Single submitter
- p.Ala151= Single submitter
- p.Ala20= Single submitter
- p.Ala260= Single submitter
- p.Asp184= Single submitter
- p.Gly181= Single submitter
- p.Pro219= Single submitter
- p.Thr213= Single submitter
- p.Asp167= No assertion criteria DNASE1-related disorder
- p.Cys126= No assertion criteria DNASE1-related disorder
- p.Ile56= No assertion criteria DNASE1-related disorder
- p.Thr42= No assertion criteria DNASE1-related disorder
Uncertain significance 46
- p.Asn40Ser Multiple submitters ⚠
- p.Ser272fs Multiple submitters
- p.Val21Met Multiple submitters ⚠
- c.437-20C>T Single submitter
- c.802-23_802-1del Single submitter
- p.Ala162Val Single submitter ⚠
- p.Ala164Val Single submitter ⚠
- p.Ala193Val Single submitter ⚠
- p.Ala27Val Single submitter ⚠
- p.Arg133Gln Single submitter systemic lupus erythematosus ⚠
- p.Arg133Leu Single submitter ⚠
- p.Arg207His Single submitter systemic lupus erythematosus ⚠
- p.Arg2Trp Single submitter ⚠
- p.Arg53His Single submitter ⚠
- p.Asn76delinsThrTrpSerArgArgSerGluThrAlaThrTer Single submitter
- p.Asp109His Single submitter ⚠
- p.Asp129Asn Single submitter systemic lupus erythematosus ⚠
- p.Asp167Asn Single submitter ⚠
- p.Gln18Pro Single submitter ⚠
- p.Gln202His Single submitter ⚠
- p.Gln258fs Single submitter systemic lupus erythematosus
- p.Gln60Arg Single submitter ⚠
- p.Glu124Gln Single submitter ⚠
- p.Gly160Arg Single submitter ⚠
- p.Gly194Asp Single submitter ⚠
- p.Gly3Asp Single submitter ⚠
- p.Gly71Arg Single submitter ⚠
- p.Gly8Glu Single submitter ⚠
- p.Gly94Arg Single submitter ⚠
- p.Ile137Thr Single submitter ⚠
- p.Met4Val Single submitter ⚠
- p.Phe255fs Single submitter
- p.Pro125Ser Single submitter ⚠
- p.Pro219Ser Single submitter ⚠
- p.Ser65fs Single submitter
- p.Thr224Pro Single submitter ⚠
- p.Thr224Ser Single submitter ⚠
- p.Thr229Met Single submitter ⚠
- p.Thr229Pro Single submitter ⚠
- p.Thr32Ala Single submitter ⚠
- p.Thr84fs Single submitter
- p.Val21Ala Single submitter ⚠
- p.Val238Ile Single submitter ⚠
- p.Val247Ala Single submitter ⚠
- p.Val277Ala Single submitter systemic lupus erythematosus ⚠
- p.Asn78Thr No assertion criteria DNASE1-related disorder ⚠