Sugi Variant

Sugi Variant/TPRKB

TPRKB — 67 ClinVar variants

All ClinVar germline TPRKB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 37 flagged for review →

1 Pathogenic · 1 Likely pathogenic · 2 Conflicting · 6 Benign · 2 Benign/Likely benign · 11 Likely benign · 44 Uncertain significance

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

⚑ Evidence disagreements 37

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 1

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

Predictors agree, ClinVar conflicts 2

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

Predictors lean, ClinVar uncertain 26

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

Predictors split 8

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

All TPRKB variants

Pathogenic 1

Likely pathogenic 1

  • p.Tyr149Asn Single submitter Galloway-Mowat syndrome 5

Conflicting classifications of pathogenicity 2

Benign 6

Benign/Likely benign 2

Likely benign 11

Uncertain significance 44