Sugi Variant

Sugi Variant/LRP6

LRP6 — 795 ClinVar variants

All ClinVar germline LRP6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 400 flagged for review →

54 Pathogenic · 3 Pathogenic/Likely pathogenic · 20 Likely pathogenic · 17 Conflicting · 96 Benign · 10 Benign/Likely benign · 181 Likely benign · 414 Uncertain significance

Full LRP6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 400

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 1

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

Predictors agree, ClinVar conflicts 13

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 253

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 253

Predictors split 132

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

All LRP6 variants

Pathogenic 54

Pathogenic/Likely pathogenic 3

  • p.Arg335Ter Multiple submitters Inborn genetic diseases
  • p.Arg415Ter Multiple submitters tooth agenesis, selective, 7
  • p.Arg585Ter Multiple submitters LRP6-related disorder

Likely pathogenic 20

Conflicting classifications of pathogenicity 17

Benign 96

Benign/Likely benign 10

Likely benign 181

Uncertain significance 414

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