Sugi Variant

Sugi Variant/DVL3

DVL3 — 452 ClinVar variants

All ClinVar germline DVL3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 228 flagged for review →

9 Pathogenic · 1 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 22 Conflicting · 34 Benign · 6 Benign/Likely benign · 159 Likely benign · 211 Uncertain significance

Full DVL3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 228

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 10

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

Predictors lean, ClinVar uncertain 83

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

Predictors split 134

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

All DVL3 variants

Pathogenic 9

  • c.1715-2A>C Single submitter autosomal dominant Robinow syndrome 1
  • c.1715-2A>G Single submitter autosomal dominant Robinow syndrome 1
  • p.Ala529fs Single submitter autosomal dominant Robinow syndrome 1
  • p.Asp584fs Single submitter autosomal dominant Robinow syndrome 3
  • p.Pro531fs Single submitter autosomal dominant Robinow syndrome 3
  • p.Ser573fs Single submitter autosomal dominant Robinow syndrome 1
  • p.Ser578fs Single submitter
  • p.Ser583fs Single submitter autosomal dominant Robinow syndrome 1
  • p.Tyr558fs Single submitter autosomal dominant Robinow syndrome 3

Pathogenic/Likely pathogenic 1

  • c.1715-1G>A Multiple submitters autosomal dominant Robinow syndrome 1

Likely pathogenic 10

  • c.763+1G>A Single submitter autosomal dominant Robinow syndrome
  • p.Gln539fs Single submitter autosomal dominant Robinow syndrome 2
  • p.Gly582fs Single submitter
  • p.Lys587fs Single submitter
  • p.Ser564fs Single submitter autosomal dominant Robinow syndrome 3
  • p.Tyr491Ter Single submitter autosomal dominant Robinow syndrome 3
  • c.1715-1G>C No assertion criteria autosomal dominant Robinow syndrome 3
  • c.1715-2del No assertion criteria autosomal dominant Robinow syndrome 3
  • p.Glu98fs No assertion criteria autosomal dominant Robinow syndrome 3
  • p.Gly123Arg No assertion criteria Short stature ⚠

Conflicting classifications of pathogenicity 22

Benign 34

Benign/Likely benign 6

Likely benign 159

Uncertain significance 211