Sugi Variant

Sugi Variant/GJC2

GJC2 — 432 ClinVar variants

All ClinVar germline GJC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 230 flagged for review →

30 Pathogenic · 7 Pathogenic/Likely pathogenic · 35 Likely pathogenic · 25 Conflicting · 7 Benign · 5 Benign/Likely benign · 77 Likely benign · 246 Uncertain significance

Full GJC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 230

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 17

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

Predictors lean, ClinVar uncertain 155

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 155

Predictors split 58

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

All GJC2 variants

Pathogenic 30

  • c.-20+1G>C Multiple submitters lymphatic malformation 3
  • p.Phe8Ter Multiple submitters leukodystrophy, hypomyelinating, 2
  • p.Ser381fs Multiple submitters Spastic paraplegia
  • p.Ala161fs Single submitter leukodystrophy, hypomyelinating, 2
  • p.Ala188fs Single submitter Spastic paraplegia
  • p.Ala312fs Single submitter Spastic paraplegia
  • p.Arg125fs Single submitter Spastic paraplegia
  • p.Arg240Ter Single submitter leukodystrophy, hypomyelinating, 2
  • p.Asp49fs Single submitter Spastic paraplegia
  • p.Glu175Ter Single submitter leukodystrophy, hypomyelinating, 2
  • p.Glu50Ter Single submitter
  • p.Gly134fs Single submitter lymphatic malformation 3
  • p.Gly236Ser Single submitter
  • p.Ile36Met Single submitter hereditary spastic paraplegia 44 ⚠
  • p.Leu74fs Single submitter leukodystrophy, hypomyelinating, 2
  • p.Lys264Ter Single submitter leukodystrophy, hypomyelinating, 2
  • p.Met286Thr Single submitter leukodystrophy, hypomyelinating, 2 ⚠
  • p.Pro305fs Single submitter leukodystrophy, hypomyelinating, 2
  • p.Pro317fs Single submitter leukodystrophy, hypomyelinating, 2
  • p.Ser48Leu Single submitter GJC2-related disorder
  • p.Ser75Ter Single submitter Spastic paraplegia
  • p.Thr195fs Single submitter leukodystrophy, hypomyelinating, 2
  • p.Trp135Ter Single submitter leukodystrophy, hypomyelinating, 2
  • p.Trp27Ter Single submitter Inborn genetic diseases
  • p.Tyr94Ter Single submitter leukodystrophy, hypomyelinating, 2
  • p.Arg260Cys No assertion criteria lymphatic malformation 3
  • p.Glu263Lys No assertion criteria leukodystrophy, hypomyelinating, 2
  • p.Pro330fs No assertion criteria leukodystrophy, hypomyelinating, 2
  • p.Tyr232Ter No assertion criteria leukodystrophy, hypomyelinating, 2
  • p.Tyr272Asp No assertion criteria leukodystrophy, hypomyelinating, 2

Pathogenic/Likely pathogenic 7

  • c.-167A>G Multiple submitters autosomal recessive GJC2-related disorders
  • p.Ala325fs Multiple submitters Spastic paraplegia
  • p.Ala379fs Multiple submitters hereditary spastic paraplegia 44
  • p.His198fs Multiple submitters Spastic paraplegia
  • p.Leu28fs Multiple submitters Spastic paraplegia
  • p.Pro131fs Multiple submitters Spastic paraplegia
  • p.Trp6Ter Multiple submitters leukodystrophy, hypomyelinating, 2

Likely pathogenic 35

  • p.Arg104fs Multiple submitters leukodystrophy, hypomyelinating, 2
  • p.His132fs Multiple submitters leukodystrophy, hypomyelinating, 2
  • p.His17fs Multiple submitters GJC2-related disorder
  • p.His252Arg Multiple submitters leukodystrophy, hypomyelinating, 2 ⚠
  • p.Leu28Pro Multiple submitters Inborn genetic diseases
  • p.Pro192fs Multiple submitters leukodystrophy, hypomyelinating, 2
  • p.Ala162fs Single submitter leukodystrophy, hypomyelinating, 2
  • p.Ala184fs Single submitter hereditary spastic paraplegia 44
  • p.Ala310fs Single submitter leukodystrophy, hypomyelinating, 2
  • p.Ala40Pro Single submitter leukodystrophy, hypomyelinating, 2
  • p.Arg121fs Single submitter
  • p.Cys245Ser Single submitter leukodystrophy, hypomyelinating, 2
  • p.Cys256Tyr Single submitter lymphatic malformation 3
  • p.Cys329fs Single submitter leukodystrophy, hypomyelinating, 2
  • p.Gln205Ter Single submitter leukodystrophy, hypomyelinating, 2
  • p.Gln231His Single submitter leukodystrophy, hypomyelinating, 2
  • p.Gln248Ter Single submitter
  • p.Gln295Ter Single submitter leukodystrophy, hypomyelinating, 2
  • p.Gln60Ter Single submitter leukodystrophy, hypomyelinating, 2
  • p.Glu143fs Single submitter leukodystrophy, hypomyelinating, 2
  • p.Glu145Lys Single submitter ⚠
  • p.Lys264Arg Single submitter
  • p.Phe34fs Single submitter leukodystrophy, hypomyelinating, 2
  • p.Pro120fs Single submitter leukodystrophy, hypomyelinating, 2
  • p.Pro309fs Single submitter leukodystrophy, hypomyelinating, 2
  • p.Pro316fs Single submitter
  • p.Pro384fs Single submitter GJC2-related disorder
  • p.Pro90Ser Single submitter leukodystrophy, hypomyelinating, 2
  • p.Trp27fs Single submitter leukodystrophy, hypomyelinating, 2
  • p.Tyr47Ter Single submitter Spastic paraplegia
  • p.Val254Met Single submitter congenital nervous system disorder
  • p.Val298fs Single submitter leukodystrophy, hypomyelinating, 2
  • p.Val30fs Single submitter Spastic paraplegia
  • p.Val66_Cys67del Single submitter leukodystrophy, hypomyelinating, 2
  • p.Val85Ala Single submitter leukodystrophy, hypomyelinating, 2 ⚠

Conflicting classifications of pathogenicity 25

Benign 7

Benign/Likely benign 5

  • c.*5G>T Multiple submitters hereditary spastic paraplegia
  • p.Asp49= Multiple submitters Spastic paraplegia
  • p.Glu176= Multiple submitters Spastic paraplegia
  • p.Ile36= Multiple submitters Spastic paraplegia
  • p.Leu28= Multiple submitters Spastic paraplegia

Likely benign 77

Uncertain significance 246