Sugi Variant

Sugi Variant/DGAT1

DGAT1 — 727 ClinVar variants

All ClinVar germline DGAT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 175 flagged for review →

33 Pathogenic · 5 Pathogenic/Likely pathogenic · 31 Likely pathogenic · 12 Conflicting · 25 Benign · 4 Benign/Likely benign · 421 Likely benign · 196 Uncertain significance

Full DGAT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 175

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 agree, ClinVar conflicts 2

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

Predictors lean, ClinVar uncertain 94

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

Predictors split 79

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

All DGAT1 variants

Pathogenic 33

Pathogenic/Likely pathogenic 5

  • c.1094+2T>C Multiple submitters DGAT1-related disorder
  • p.Arg395Ter Multiple submitters congenital diarrhea 7 with exudative enteropathy
  • p.Gln119Ter Multiple submitters congenital diarrhea 7 with exudative enteropathy
  • p.Ser210del Multiple submitters congenital diarrhea 7 with exudative enteropathy
  • p.Trp365Ter Multiple submitters

Likely pathogenic 31

Conflicting classifications of pathogenicity 12

Benign 25

Benign/Likely benign 4

Likely benign 421

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 196