Sugi Variant

Sugi Variant/PLOD3

PLOD3 — 746 ClinVar variants

All ClinVar germline PLOD3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 266 flagged for review →

19 Pathogenic · 1 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 28 Conflicting · 41 Benign · 14 Benign/Likely benign · 352 Likely benign · 276 Uncertain significance

Full PLOD3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 266

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 18

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

Predictors lean, ClinVar uncertain 174

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 174

Predictors split 74

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

All PLOD3 variants

Pathogenic 19

Pathogenic/Likely pathogenic 1

  • p.Tyr630Ter Multiple submitters bone fragility with contractures, arterial rupture, and deafness

Likely pathogenic 15

Conflicting classifications of pathogenicity 28

Benign 41

Benign/Likely benign 14

Likely benign 352

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

Uncertain significance 276