Sugi Variant

Sugi Variant/DOCK3

DOCK3 — 296 ClinVar variants

All ClinVar germline DOCK3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 229 flagged for review →

7 Pathogenic · 1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 3 Conflicting · 4 Benign · 2 Benign/Likely benign · 41 Likely benign · 233 Uncertain significance

Full DOCK3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 229

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 1

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

Predictors lean, ClinVar uncertain 139

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

Predictors split 89

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

All DOCK3 variants

Pathogenic 7

  • p.Arg72fs Single submitter
  • p.Gln128Ter Single submitter Inborn genetic diseases
  • p.Gly55fs Single submitter
  • p.Leu1411fs Single submitter neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia
  • p.Lys589fs Single submitter Inborn genetic diseases
  • p.Ser172fs Single submitter neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia
  • p.Tyr1036fs No assertion criteria Hypotonia

Pathogenic/Likely pathogenic 1

  • p.Pro1406fs Multiple submitters neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia

Likely pathogenic 5

  • c.1037+1G>A Single submitter DOCK3-related disorder
  • c.1038-2A>G Single submitter neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia
  • p.Arg2001Ter Single submitter neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia
  • p.Arg362Ter Single submitter DOCK3-related disorder
  • p.Ser847fs No assertion criteria DOCK3-related disorder

Conflicting classifications of pathogenicity 3

  • p.Leu1267= Single submitter
  • p.Met1674Leu Single submitter neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia ⚠
  • p.Thr346= Single submitter Inborn genetic diseases

Benign 4

  • c.1918-3T>C Multiple submitters neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia
  • p.Arg621Gln Multiple submitters
  • p.Leu125= Multiple submitters
  • c.2548+6T>A No assertion criteria DOCK3-related disorder

Benign/Likely benign 2

Likely benign 41

Uncertain significance 233