Sugi Variant

Sugi Variant/DMPK

DMPK — 395 ClinVar variants

All ClinVar germline DMPK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 122 flagged for review →

180 Pathogenic · 2 Likely pathogenic · 3 Conflicting · 19 Benign · 51 Likely benign · 140 Uncertain significance

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

⚑ Evidence disagreements 122

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 96

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

Predictors split 23

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

All DMPK variants

Pathogenic 180

Likely pathogenic 2

Conflicting classifications of pathogenicity 3

Benign 19

Likely benign 51

Uncertain significance 140