Sugi Variant

Sugi Variant/VCAN

VCAN — 2559 ClinVar variants

All ClinVar germline VCAN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1355 flagged for review →

17 Pathogenic · 5 Likely pathogenic · 189 Conflicting · 64 Benign · 88 Benign/Likely benign · 621 Likely benign · 1575 Uncertain significance

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

⚑ Evidence disagreements 1355

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 149

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

Predicted LoF vs a conflicting call 2

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 1165

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 1165

Predictors split 39

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

All VCAN variants

Pathogenic 17

Likely pathogenic 5

Conflicting classifications of pathogenicity 189

Benign 64

Benign/Likely benign 88

Likely benign 621

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

Uncertain significance 1575

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