Sugi Variant

Sugi Variant/HMGCR

HMGCR — 72 ClinVar variants

All ClinVar germline HMGCR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 60 flagged for review →

3 Pathogenic · 4 Likely pathogenic · 2 Conflicting · 2 Benign · 7 Likely benign · 54 Uncertain significance

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

⚑ Evidence disagreements 60

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 lean, ClinVar uncertain 35

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

Predictors split 23

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

All HMGCR variants

Pathogenic 3

  • p.Gly822Asp Single submitter limb-girdle muscular dystrophy ⚠
  • c.365+4A>G No assertion criteria muscular dystrophy, limb-girdle, autosomal recessive 28
  • p.Tyr792Cys No assertion criteria muscular dystrophy, limb-girdle, autosomal recessive 28 ⚠

Likely pathogenic 4

Conflicting classifications of pathogenicity 2

Benign 2

  • c.*8G>A No assertion criteria HMGCR-related disorder
  • p.Tyr311Ser No assertion criteria HMGCR-related disorder

Likely benign 7

  • p.Arg393Gln Single submitter Inborn genetic diseases
  • p.Asp285= Single submitter
  • p.Gly453Glu Single submitter Inborn genetic diseases
  • p.Cys44= No assertion criteria HMGCR-related disorder
  • p.Phe206= No assertion criteria HMGCR-related disorder
  • p.Ser261= No assertion criteria HMGCR-related disorder
  • p.Ser745= No assertion criteria HMGCR-related disorder

Uncertain significance 54