Sugi Variant

Sugi Variant/DONSON

DONSON — 293 ClinVar variants

All ClinVar germline DONSON variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 131 flagged for review →

28 Pathogenic · 5 Pathogenic/Likely pathogenic · 13 Likely pathogenic · 11 Conflicting · 16 Benign · 91 Likely benign · 129 Uncertain significance

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

⚑ Evidence disagreements 131

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 2

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

Predictors agree, ClinVar conflicts 7

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 59

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 63

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

All DONSON variants

Pathogenic 28

Pathogenic/Likely pathogenic 5

  • p.Gln428Ter Multiple submitters Inborn genetic diseases
  • p.Gln492fs Multiple submitters
  • p.Glu17fs Multiple submitters Meier-Gorlin syndrome 1
  • p.Lys419Ter Multiple submitters microcephaly, short stature, and limb abnormalities
  • p.Phe165Ser Multiple submitters Meier-Gorlin syndrome

Likely pathogenic 13

Conflicting classifications of pathogenicity 11

Benign 16

Likely benign 91

Uncertain significance 129