Sugi Variant

Sugi Variant/DDRGK1

DDRGK1 — 160 ClinVar variants

All ClinVar germline DDRGK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 84 flagged for review →

2 Pathogenic · 1 Likely pathogenic · 13 Benign · 1 Benign/Likely benign · 61 Likely benign · 82 Uncertain significance

Full DDRGK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 84

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 lean, ClinVar uncertain 35

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

Predictors split 49

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

All DDRGK1 variants

Pathogenic 2

  • p.Arg131Ter Multiple submitters spondyloepimetaphyseal dysplasia, Shohat type
  • c.408+1G>A No assertion criteria spondyloepimetaphyseal dysplasia, Shohat type

Likely pathogenic 1

Benign 13

Benign/Likely benign 1

Likely benign 61

Uncertain significance 82