Sugi Variant

Sugi Variant/MED23

MED23 — 252 ClinVar variants

All ClinVar germline MED23 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 142 flagged for review →

9 Pathogenic · 1 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 6 Conflicting · 4 Benign · 4 Benign/Likely benign · 48 Likely benign · 166 Uncertain significance

Full MED23 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 142

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 65

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

Predictors split 76

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

All MED23 variants

Pathogenic 9

  • c.597+1G>T Single submitter
  • p.Arg1328Pro Single submitter intellectual disability, autosomal recessive 18
  • p.Arg224Gly Single submitter intellectual disability, autosomal recessive 18 ⚠
  • p.Tyr272Ter Single submitter Inborn genetic diseases
  • p.Val945fs Single submitter intellectual disability, autosomal recessive 18
  • p.Gln640Arg No assertion criteria intellectual disability, autosomal recessive 18 ⚠
  • p.Gly128Arg No assertion criteria intellectual disability, autosomal recessive 18 ⚠
  • p.His1213Arg No assertion criteria intellectual disability, autosomal recessive 18 ⚠
  • p.Tyr169Cys No assertion criteria intellectual disability, autosomal recessive 18 ⚠

Pathogenic/Likely pathogenic 1

  • p.Ser1118Ter Multiple submitters intellectual disability, autosomal recessive 18

Likely pathogenic 14

Conflicting classifications of pathogenicity 6

  • c.1078-6T>G Single submitter intellectual disability, autosomal recessive 18
  • c.3939+5G>A Single submitter intellectual disability, autosomal recessive 18
  • p.Arg1328Cys Single submitter neurodevelopmental disorder ⚠
  • p.Arg1330Ter Single submitter intellectual disability, autosomal recessive 18
  • p.Val1360= Single submitter Inborn genetic diseases
  • p.Val87Ile Single submitter Inborn genetic diseases ⚠

Benign 4

Benign/Likely benign 4

  • c.40-18dup Multiple submitters Inborn genetic diseases
  • p.Ala678= Multiple submitters Inborn genetic diseases
  • p.Ala938= Multiple submitters Inborn genetic diseases
  • p.Ser153= Multiple submitters Inborn genetic diseases

Likely benign 48

Uncertain significance 166