Sugi Variant

Sugi Variant/DOT1L

DOT1L — 319 ClinVar variants

All ClinVar germline DOT1L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 219 flagged for review →

8 Pathogenic · 1 Likely pathogenic · 1 Conflicting · 11 Benign · 1 Benign/Likely benign · 65 Likely benign · 232 Uncertain significance

Full DOT1L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 219

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 4

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

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 154

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 154

Predictors split 60

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

All DOT1L variants

Pathogenic 8

  • p.Arg853Cys No assertion criteria Nil-Deshwar neurodevelopmental syndrome ⚠
  • p.Asp157Asn No assertion criteria Nil-Deshwar neurodevelopmental syndrome
  • p.Cys45Gly No assertion criteria Nil-Deshwar neurodevelopmental syndrome ⚠
  • p.Glu123Lys No assertion criteria Nil-Deshwar neurodevelopmental syndrome
  • p.Glu129Lys No assertion criteria Nil-Deshwar neurodevelopmental syndrome
  • p.Leu626Val No assertion criteria Nil-Deshwar neurodevelopmental syndrome ⚠
  • p.Lys1025Met No assertion criteria Nil-Deshwar neurodevelopmental syndrome ⚠
  • p.Thr100Met No assertion criteria Nil-Deshwar neurodevelopmental syndrome ⚠

Likely pathogenic 1

Conflicting classifications of pathogenicity 1

Benign 11

Benign/Likely benign 1

Likely benign 65

Uncertain significance 232