DNTT — 83 ClinVar variants
All ClinVar germline DNTT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 73 flagged for review →
4 Benign · 1 Benign/Likely benign · 6 Likely benign · 72 Uncertain significance
Full DNTT gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 73
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 35
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DNTT p.Ala195Thr Uncertain significance Single submitter
- DNTT p.Ala21Val Uncertain significance Single submitter
- DNTT p.Ala239Ser Uncertain significance Single submitter
- DNTT p.Ala429Val Uncertain significance Single submitter
- DNTT p.Arg441His Uncertain significance Single submitter
- DNTT p.Arg442Leu Uncertain significance Single submitter
- DNTT p.Arg460Trp Uncertain significance Single submitter
- DNTT p.Arg461Pro Uncertain significance Single submitter
- DNTT p.Arg48Ser Uncertain significance Single submitter
- DNTT p.Asp378His Uncertain significance Single submitter
- DNTT p.Asp472Asn Uncertain significance Single submitter
- DNTT p.Cys188Trp Uncertain significance Single submitter
- DNTT p.Cys403Gly Uncertain significance Single submitter
- DNTT p.Glu109Asp Uncertain significance Single submitter
- DNTT p.Glu466Lys Uncertain significance Single submitter
- DNTT p.Gly448Arg Uncertain significance Single submitter
- DNTT p.His399Arg Uncertain significance Single submitter
- DNTT p.His474Pro Uncertain significance Single submitter
- DNTT p.Ile470Phe Uncertain significance Single submitter
- DNTT p.Lys149Asn Uncertain significance Single submitter
- DNTT p.Met269Leu Uncertain significance Single submitter
- DNTT p.Pro137Leu Uncertain significance Single submitter
- DNTT p.Pro140Arg Uncertain significance Single submitter
- DNTT p.Pro504Leu Uncertain significance Single submitter
- DNTT p.Ser275Asn Uncertain significance Single submitter
- DNTT p.Ser82Leu Uncertain significance Single submitter
- DNTT p.Thr160Ala Uncertain significance Single submitter
- DNTT p.Thr450Ser Uncertain significance Single submitter
- DNTT p.Trp266Leu Uncertain significance Single submitter
- DNTT p.Val240Leu Uncertain significance Single submitter
- DNTT p.Val311Ile Uncertain significance Single submitter
- DNTT p.Val344Ile Uncertain significance Single submitter
- DNTT p.Val394Ala Uncertain significance Single submitter
- DNTT p.Val394Leu Uncertain significance Single submitter
- DNTT p.Val435Ala Uncertain significance Single submitter
Predictors split 38
The independent predictors disagree with each other — read with care.
- DNTT p.Asp280His Likely benign Multiple submitters
- DNTT p.Ala194Val Uncertain significance Single submitter
- DNTT p.Ala326Val Uncertain significance Single submitter
- DNTT p.Ala475Asp Uncertain significance Single submitter
- DNTT p.Ala509Val Uncertain significance Single submitter
- DNTT p.Arg12Gln Uncertain significance Single submitter
- DNTT p.Arg12Trp Uncertain significance Single submitter
- DNTT p.Arg268Trp Uncertain significance Single submitter
- DNTT p.Arg335Gln Uncertain significance Single submitter
- DNTT p.Arg442Cys Uncertain significance Single submitter
- DNTT p.Arg453Gln Uncertain significance Single submitter
- DNTT p.Arg461Leu Uncertain significance Single submitter
- DNTT p.Arg62Ser Uncertain significance Single submitter
- DNTT p.Asp173Gly Uncertain significance Single submitter
- DNTT p.Gln89Pro Uncertain significance Single submitter
- DNTT p.Glu307Asp Uncertain significance Single submitter
- DNTT p.Leu251Phe Uncertain significance Single submitter
- DNTT p.Leu373Val Uncertain significance Single submitter
- DNTT p.Leu476Val Uncertain significance Single submitter
- DNTT p.Leu52Val Uncertain significance Single submitter
- DNTT p.Lys479Glu Uncertain significance Single submitter
- DNTT p.Met44Val Uncertain significance Single submitter
- DNTT p.Phe484Leu Uncertain significance Single submitter
- DNTT p.Pro116Leu Uncertain significance Single submitter
- DNTT p.Pro202Thr Uncertain significance Single submitter
- DNTT p.Pro324Leu Uncertain significance Single submitter
- DNTT p.Pro390Ser Uncertain significance Single submitter
- DNTT p.Pro410Leu Uncertain significance Single submitter
- DNTT p.Pro99Ser Uncertain significance Single submitter
- DNTT p.Ser350Asn Uncertain significance Single submitter
- DNTT p.Ser489Asn Uncertain significance Single submitter
- DNTT p.Ser68Gly Uncertain significance Single submitter
- DNTT p.Ser80Leu Uncertain significance Single submitter
- DNTT p.Thr169Met Uncertain significance Single submitter
- DNTT p.Thr211Ser Uncertain significance Single submitter
- DNTT p.Thr253Ser Uncertain significance Single submitter
- DNTT p.Tyr295Cys Uncertain significance Single submitter
- DNTT p.Val75Leu Uncertain significance Single submitter
All DNTT variants
Benign 4
- c.203+7C>G Multiple submitters
- c.203+9G>A Multiple submitters
- p.Ala90Val Multiple submitters
- p.Asn165= Single submitter
Benign/Likely benign 1
- p.Glu244= Multiple submitters
Likely benign 6
- p.Asp280His Multiple submitters ⚠
- p.Arg129= Single submitter
- p.Arg388Lys Single submitter
- p.Arg411His Single submitter
- p.Cys188Tyr Single submitter
- p.Gln454= Single submitter
Uncertain significance 72
- p.Ala194Val Single submitter ⚠
- p.Ala195Thr Single submitter ⚠
- p.Ala21Val Single submitter ⚠
- p.Ala239Ser Single submitter ⚠
- p.Ala326Val Single submitter ⚠
- p.Ala429Val Single submitter ⚠
- p.Ala475Asp Single submitter ⚠
- p.Ala509Val Single submitter ⚠
- p.Arg12Gln Single submitter ⚠
- p.Arg12Trp Single submitter ⚠
- p.Arg268Trp Single submitter ⚠
- p.Arg335Gln Single submitter ⚠
- p.Arg441His Single submitter ⚠
- p.Arg442Cys Single submitter ⚠
- p.Arg442Leu Single submitter ⚠
- p.Arg453Gln Single submitter ⚠
- p.Arg460Trp Single submitter ⚠
- p.Arg461Leu Single submitter ⚠
- p.Arg461Pro Single submitter ⚠
- p.Arg48Ser Single submitter ⚠
- p.Arg62Ser Single submitter ⚠
- p.Asp173Gly Single submitter ⚠
- p.Asp378His Single submitter ⚠
- p.Asp472Asn Single submitter ⚠
- p.Cys188Trp Single submitter ⚠
- p.Cys403Gly Single submitter ⚠
- p.Gln89Pro Single submitter ⚠
- p.Glu109Asp Single submitter ⚠
- p.Glu307Asp Single submitter ⚠
- p.Glu466Lys Single submitter ⚠
- p.Gly448Arg Single submitter ⚠
- p.His399Arg Single submitter ⚠
- p.His474Pro Single submitter ⚠
- p.Ile470Phe Single submitter ⚠
- p.Leu251Phe Single submitter ⚠
- p.Leu373Val Single submitter ⚠
- p.Leu476Val Single submitter ⚠
- p.Leu52Val Single submitter ⚠
- p.Lys149Asn Single submitter ⚠
- p.Lys479Glu Single submitter ⚠
- p.Met269Leu Single submitter ⚠
- p.Met44Val Single submitter ⚠
- p.Phe484Leu Single submitter ⚠
- p.Pro116Leu Single submitter ⚠
- p.Pro137Leu Single submitter ⚠
- p.Pro140Arg Single submitter ⚠
- p.Pro202Thr Single submitter ⚠
- p.Pro324Leu Single submitter ⚠
- p.Pro390Ser Single submitter ⚠
- p.Pro410Leu Single submitter ⚠
- p.Pro504Leu Single submitter ⚠
- p.Pro99Ser Single submitter ⚠
- p.Ser275Asn Single submitter ⚠
- p.Ser350Asn Single submitter ⚠
- p.Ser489Asn Single submitter ⚠
- p.Ser68Gly Single submitter ⚠
- p.Ser80Leu Single submitter ⚠
- p.Ser82Leu Single submitter ⚠
- p.Thr160Ala Single submitter ⚠
- p.Thr169Met Single submitter ⚠
- p.Thr211Ser Single submitter ⚠
- p.Thr253Ser Single submitter ⚠
- p.Thr450Ser Single submitter ⚠
- p.Trp266Leu Single submitter ⚠
- p.Tyr295Cys Single submitter ⚠
- p.Val240Leu Single submitter ⚠
- p.Val311Ile Single submitter ⚠
- p.Val344Ile Single submitter ⚠
- p.Val394Ala Single submitter ⚠
- p.Val394Leu Single submitter ⚠
- p.Val435Ala Single submitter ⚠
- p.Val75Leu Single submitter ⚠