Sugi Variant

Sugi Variant/DSTYK

DSTYK — 350 ClinVar variants

All ClinVar germline DSTYK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 224 flagged for review →

2 Pathogenic · 4 Likely pathogenic · 10 Conflicting · 24 Benign · 3 Benign/Likely benign · 82 Likely benign · 225 Uncertain significance

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

⚑ Evidence disagreements 224

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 5

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

Predicted LoF vs a conflicting call 2

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 143

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

Predictors split 73

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

All DSTYK variants

Pathogenic 2

Likely pathogenic 4

  • p.Gln352fs Single submitter congenital anomalies of kidney and urinary tract 1
  • p.Gln465Arg Single submitter congenital anomalies of kidney and urinary tract 1 ⚠
  • p.Gly493Ter Single submitter congenital anomalies of kidney and urinary tract 1
  • p.Glu297fs No assertion criteria congenital anomalies of kidney and urinary tract 1

Conflicting classifications of pathogenicity 10

Benign 24

Benign/Likely benign 3

Likely benign 82

Uncertain significance 225