Sugi Variant

Sugi Variant/PPCS

PPCS — 264 ClinVar variants

All ClinVar germline PPCS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 111 flagged for review →

1 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 5 Conflicting · 8 Benign · 3 Benign/Likely benign · 117 Likely benign · 127 Uncertain significance

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

⚑ Evidence disagreements 111

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 3

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

Predictors lean, ClinVar uncertain 89

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

Predictors split 19

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

All PPCS variants

Pathogenic 1

  • p.Ala180Pro No assertion criteria cardiomyopathy, dilated, 2c

Pathogenic/Likely pathogenic 1

  • p.Glu233Val Multiple submitters cardiomyopathy, dilated, 2c

Likely pathogenic 2

  • p.Ala243Pro Single submitter cardiomyopathy, dilated, 2c
  • p.Leu213fs Single submitter cardiomyopathy, dilated, 2c

Conflicting classifications of pathogenicity 5

Benign 8

Benign/Likely benign 3

Likely benign 117

Uncertain significance 127