Sugi Variant

Sugi Variant/HSD3B7

HSD3B7 — 211 ClinVar variants

All ClinVar germline HSD3B7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 96 flagged for review →

15 Pathogenic · 3 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 11 Conflicting · 15 Benign · 3 Benign/Likely benign · 47 Likely benign · 107 Uncertain significance

Full HSD3B7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 96

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 56

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

Predictors split 38

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

All HSD3B7 variants

Pathogenic 15

Pathogenic/Likely pathogenic 3

  • p.Arg27Ter Multiple submitters
  • p.Glu147Lys Multiple submitters congenital bile acid synthesis defect 1
  • p.Glu167Ter Multiple submitters congenital bile acid synthesis defect 1

Likely pathogenic 10

  • p.Phe342fs Multiple submitters congenital bile acid synthesis defect 1
  • c.322+1G>T Single submitter congenital bile acid synthesis defect 1
  • c.323-1G>A Single submitter congenital bile acid synthesis defect 1
  • c.431+2T>C Single submitter congenital bile acid synthesis defect 1
  • c.531+1G>A Single submitter
  • c.532-2A>G Single submitter
  • p.Gln69Ter Single submitter congenital bile acid synthesis defect 1
  • p.Leu184fs Single submitter congenital bile acid synthesis defect 1
  • p.Thr250fs Single submitter congenital bile acid synthesis defect 1
  • p.Ser263fs No assertion criteria HSD3B7-related disorder

Conflicting classifications of pathogenicity 11

Benign 15

Benign/Likely benign 3

Likely benign 47

Uncertain significance 107