Sugi Variant

Sugi Variant/SHH

SHH — 519 ClinVar variants

All ClinVar germline SHH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 228 flagged for review →

57 Pathogenic · 5 Pathogenic/Likely pathogenic · 64 Likely pathogenic · 20 Conflicting · 18 Benign · 8 Benign/Likely benign · 117 Likely benign · 230 Uncertain significance

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

⚑ Evidence disagreements 228

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 3

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

Predictors agree, ClinVar conflicts 9

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

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 61

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

All SHH variants

Pathogenic 57

Pathogenic/Likely pathogenic 5

  • p.Cys198Arg Multiple submitters solitary median maxillary central incisor syndrome
  • p.Glu286fs Multiple submitters holoprosencephaly 3
  • p.Pro347Leu Multiple submitters holoprosencephaly 3
  • p.Ser436Ter Multiple submitters holoprosencephaly 3
  • p.Tyr253Ter Multiple submitters Inborn genetic diseases

Likely pathogenic 64

Conflicting classifications of pathogenicity 20

Benign 18

Benign/Likely benign 8

Likely benign 117

Uncertain significance 230