DNASE1L1 — 26 ClinVar variants
All ClinVar germline DNASE1L1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 17 flagged for review →
2 Benign · 6 Likely benign · 18 Uncertain significance
Full DNASE1L1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 17
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 lean, ClinVar uncertain 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DNASE1L1 p.Ala130Val Uncertain significance Single submitter
- DNASE1L1 p.Arg20Ser Uncertain significance Single submitter
- DNASE1L1 p.Asp176Asn Uncertain significance Single submitter
- DNASE1L1 p.Asp41Glu Uncertain significance Single submitter
- DNASE1L1 p.Gln17His Uncertain significance Single submitter
- DNASE1L1 p.His171Gln Uncertain significance Single submitter
- DNASE1L1 p.Pro146Leu Uncertain significance Single submitter
- DNASE1L1 p.Thr191Asn Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- DNASE1L1 p.Arg194Cys Uncertain significance Single submitter
- DNASE1L1 p.Arg219Gln Uncertain significance Single submitter
- DNASE1L1 p.Arg235Cys Uncertain significance Single submitter
- DNASE1L1 p.Arg92Cys Uncertain significance Single submitter
- DNASE1L1 p.Asp163Asn Uncertain significance Single submitter
- DNASE1L1 p.Ile262Leu Uncertain significance Single submitter
- DNASE1L1 p.Ile46Met Uncertain significance Single submitter
- DNASE1L1 p.Leu7Phe Uncertain significance Single submitter
- DNASE1L1 p.Pro204Thr Uncertain significance Single submitter
All DNASE1L1 variants
Benign 2
- c.-431+167del Single submitter
- p.Pro67= Single submitter
Likely benign 6
- p.Asn117= Single submitter
- p.Thr250Arg Single submitter
- p.Thr30= Single submitter
- p.Tyr162= Single submitter
- p.Val100= Single submitter
- p.Val229Ile Single submitter
Uncertain significance 18
- c.*1851C>T Single submitter
- p.Ala130Val Single submitter ⚠
- p.Arg194Cys Single submitter ⚠
- p.Arg20Ser Single submitter ⚠
- p.Arg219Gln Single submitter ⚠
- p.Arg235Cys Single submitter ⚠
- p.Arg92Cys Single submitter ⚠
- p.Asp163Asn Single submitter ⚠
- p.Asp176Asn Single submitter ⚠
- p.Asp41Glu Single submitter ⚠
- p.Gln17His Single submitter ⚠
- p.His171Gln Single submitter ⚠
- p.Ile262Leu Single submitter ⚠
- p.Ile46Met Single submitter ⚠
- p.Leu7Phe Single submitter ⚠
- p.Pro146Leu Single submitter ⚠
- p.Pro204Thr Single submitter ⚠
- p.Thr191Asn Single submitter ⚠