Sugi Variant

Sugi Variant/PKLR

PKLR — 472 ClinVar variants

All ClinVar germline PKLR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 233 flagged for review →

44 Pathogenic · 18 Pathogenic/Likely pathogenic · 56 Likely pathogenic · 53 Conflicting · 8 Benign · 3 Benign/Likely benign · 49 Likely benign · 241 Uncertain significance

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

⚑ Evidence disagreements 233

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 7

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 28

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

Predictors lean, ClinVar uncertain 129

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

Predictors split 69

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

All PKLR variants

Pathogenic 44

Pathogenic/Likely pathogenic 18

Likely pathogenic 56

Conflicting classifications of pathogenicity 53

Benign 8

Benign/Likely benign 3

  • c.375+10G>T Multiple submitters pyruvate kinase deficiency of red cells
  • p.Leu61= Multiple submitters pyruvate kinase deficiency of red cells
  • p.Ser562= Multiple submitters pyruvate kinase deficiency of red cells

Likely benign 49

Uncertain significance 241