Sugi Variant

Sugi Variant/PKDCC

PKDCC — 194 ClinVar variants

All ClinVar germline PKDCC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 104 flagged for review →

7 Pathogenic · 1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 4 Conflicting · 9 Benign · 1 Benign/Likely benign · 58 Likely benign · 109 Uncertain significance

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

⚑ Evidence disagreements 104

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 4

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

Predictors lean, ClinVar uncertain 70

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

Predictors split 30

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

All PKDCC variants

Pathogenic 7

Pathogenic/Likely pathogenic 1

  • p.Leu262Arg Multiple submitters Abnormality of the skeletal system

Likely pathogenic 5

  • c.1115-2A>G Single submitter
  • c.640-2A>T Single submitter rhizomelic limb shortening with dysmorphic features
  • p.Leu97fs Single submitter rhizomelic limb shortening with dysmorphic features
  • p.Pro77fs Single submitter rhizomelic limb shortening with dysmorphic features
  • p.Trp376Ter Single submitter rhizomelic limb shortening with dysmorphic features

Conflicting classifications of pathogenicity 4

Benign 9

Benign/Likely benign 1

Likely benign 58

Uncertain significance 109