DUT — 17 ClinVar variants
All ClinVar germline DUT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 14 flagged for review →
1 Likely pathogenic · 1 Benign · 2 Likely benign · 13 Uncertain significance
Full DUT gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 14
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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DUT p.Tyr142Cys
Likely pathogenic
Single submitter
bone marrow failure and diabetes mellitus syndrome
Predictors lean, ClinVar uncertain 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DUT p.Ala235Ser Uncertain significance Single submitter
-
DUT p.Arg173Trp
Uncertain significance
Single submitter
bone marrow failure and diabetes mellitus syndrome
-
DUT p.Arg216Gln
Uncertain significance
Single submitter
bone marrow failure and diabetes mellitus syndrome
- DUT p.Asp192His Uncertain significance Single submitter
- DUT p.Gln219His Uncertain significance Single submitter
- DUT p.Glu223Lys Uncertain significance Single submitter
- DUT p.Gly135Ala Uncertain significance Single submitter
- DUT p.Gly214Arg Uncertain significance Single submitter
- DUT p.Phe202Leu Uncertain significance Single submitter
- DUT p.Phe246Val Uncertain significance Single submitter
- DUT p.Pro100Ser Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All DUT variants
Likely pathogenic 1
- p.Tyr142Cys Single submitter bone marrow failure and diabetes mellitus syndrome ⚠
Benign 1
- c.280+9G>A Single submitter
Likely benign 2
- p.Ile53Thr Single submitter
- p.Val109= Single submitter
Uncertain significance 13
- p.Ala235Ser Single submitter ⚠
- p.Arg173Trp Single submitter bone marrow failure and diabetes mellitus syndrome ⚠
- p.Arg216Gln Single submitter bone marrow failure and diabetes mellitus syndrome ⚠
- p.Asp192His Single submitter ⚠
- p.Gln219His Single submitter ⚠
- p.Glu223Lys Single submitter ⚠
- p.Glu240Lys Single submitter ⚠
- p.Gly135Ala Single submitter ⚠
- p.Gly214Arg Single submitter ⚠
- p.Phe202Leu Single submitter ⚠
- p.Phe246Val Single submitter ⚠
- p.Pro100Leu Single submitter ⚠
- p.Pro100Ser Single submitter ⚠