Sugi Variant

Sugi Variant/DLG3

DLG3 — 285 ClinVar variants

All ClinVar germline DLG3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 146 flagged for review →

21 Pathogenic · 1 Pathogenic/Likely pathogenic · 17 Likely pathogenic · 13 Conflicting · 21 Benign · 6 Benign/Likely benign · 42 Likely benign · 164 Uncertain significance

Full DLG3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 146

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 1

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 85

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

Predictors split 54

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

All DLG3 variants

Pathogenic 21

  • p.Arg211Ter Multiple submitters Inborn genetic diseases
  • p.Arg217Ter Multiple submitters intellectual disability, X-linked 90
  • p.Arg756Ter Multiple submitters intellectual disability, X-linked 90
  • p.Val459fs Multiple submitters intellectual disability, X-linked 90
  • c.-8dup Single submitter intellectual disability, X-linked 90
  • p.Ala450fs Single submitter intellectual disability, X-linked 90
  • p.Gln34Ter Single submitter
  • p.Gln457fs Single submitter
  • p.Gln557Ter Single submitter intellectual disability, X-linked 90
  • p.Glu588Ter Single submitter intellectual disability
  • p.Gly264fs Single submitter
  • p.Gly53fs Single submitter Inborn genetic diseases
  • p.Ser458Ter Single submitter intellectual disability, X-linked 90
  • p.Tyr117Ter Single submitter Inborn genetic diseases
  • p.Tyr505fs Single submitter
  • p.Tyr760Ter Single submitter
  • p.Val183fs Single submitter Inborn genetic diseases
  • c.1302+1G>A No assertion criteria intellectual disability, X-linked 90
  • c.357+1G>C No assertion criteria intellectual disability, X-linked 90
  • c.985+1G>C No assertion criteria intellectual disability, X-linked 90
  • p.Thr365fs No assertion criteria intellectual disability, X-linked 90

Pathogenic/Likely pathogenic 1

Likely pathogenic 17

  • c.1302+5G>A Single submitter intellectual disability, X-linked 90
  • c.1520+1G>T Single submitter
  • c.1819+1del Single submitter intellectual disability, X-linked 90
  • c.840+1G>A Single submitter
  • c.985+5G>A Single submitter intellectual disability, X-linked 90
  • p.Arg198Trp Single submitter ⚠
  • p.Asn45fs Single submitter intellectual disability, X-linked 90
  • p.Asp540fs Single submitter intellectual disability, X-linked 90
  • p.Asp699del Single submitter
  • p.Gln483Ter Single submitter intellectual disability, X-linked 90
  • p.Glu791Ter Single submitter intellectual disability, X-linked 90
  • p.Lys231Ter Single submitter intellectual disability, X-linked 90
  • p.Ser339fs Single submitter intellectual disability, X-linked 90
  • p.Ser488fs Single submitter intellectual disability, X-linked 90
  • p.Tyr14Ter Single submitter
  • p.Tyr39Ter Single submitter intellectual disability, X-linked 90
  • p.Tyr54fs Single submitter Inborn genetic diseases

Conflicting classifications of pathogenicity 13

Benign 21

Benign/Likely benign 6

Likely benign 42

Uncertain significance 164