Sugi Variant

Sugi Variant/LBR

LBR — 480 ClinVar variants

All ClinVar germline LBR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 219 flagged for review →

20 Pathogenic · 5 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 39 Conflicting · 34 Benign · 13 Benign/Likely benign · 120 Likely benign · 243 Uncertain significance

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

⚑ Evidence disagreements 219

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 17

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 152

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 152

Predictors split 49

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

All LBR variants

Pathogenic 20

Pathogenic/Likely pathogenic 5

Likely pathogenic 6

Conflicting classifications of pathogenicity 39

Benign 34

Benign/Likely benign 13

Likely benign 120

Uncertain significance 243