Sugi Variant

Sugi Variant/VAC14

VAC14 — 510 ClinVar variants

All ClinVar germline VAC14 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 163 flagged for review →

9 Pathogenic · 1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 10 Conflicting · 47 Benign · 9 Benign/Likely benign · 259 Likely benign · 170 Uncertain significance

Full VAC14 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 163

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 agree, ClinVar conflicts 7

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

Predictors lean, ClinVar uncertain 122

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

Predictors split 32

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

All VAC14 variants

Pathogenic 9

Pathogenic/Likely pathogenic 1

  • p.Leu308Ter Multiple submitters VAC14-related disorder

Likely pathogenic 5

Conflicting classifications of pathogenicity 10

Benign 47

Benign/Likely benign 9

Likely benign 259

Uncertain significance 170