Sugi Variant

Sugi Variant/GJA8

GJA8 — 303 ClinVar variants

All ClinVar germline GJA8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 182 flagged for review →

13 Pathogenic · 11 Pathogenic/Likely pathogenic · 31 Likely pathogenic · 26 Conflicting · 8 Benign · 5 Benign/Likely benign · 34 Likely benign · 175 Uncertain significance

Full GJA8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 182

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 19

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

Predictors lean, ClinVar uncertain 119

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

Predictors split 44

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

All GJA8 variants

Pathogenic 13

  • p.Gly46Glu Multiple submitters cataract 1 multiple types
  • p.Val44Met Multiple submitters cataract 1 multiple types ⚠
  • p.Asp47Asn Single submitter cataract 1 multiple types
  • p.Asp51Glu Single submitter cataract 1 multiple types ⚠
  • p.Glu201Gly Single submitter cataract 1 multiple types
  • p.Glu48Gly Single submitter cataract 1 multiple types
  • p.Gly46Arg Single submitter cataract 1 multiple types
  • p.Phe32Val Single submitter cataract 1 multiple types
  • p.Pro59Leu Single submitter cataract 1 multiple types
  • p.Tyr66Asp Single submitter cataract 1 multiple types
  • p.Tyr66Cys Single submitter cataract 1 multiple types
  • p.Tyr66His Single submitter cataract 1 multiple types
  • p.Tyr66Ser Single submitter cataract 1 multiple types

Pathogenic/Likely pathogenic 11

  • p.Asp47His Multiple submitters cataract 1 multiple types
  • p.Gly22Ser Multiple submitters cataract 1 multiple types
  • p.Gly60Ser Multiple submitters cataract 1 multiple types
  • p.Pro88Ala Multiple submitters cataract 1 multiple types
  • p.Pro88Leu Multiple submitters GJA8-related disorders
  • p.Pro88Ser Multiple submitters cataract 1 multiple types
  • p.Ser258Phe Multiple submitters GJA8-related disorders ⚠
  • p.Trp45Cys Multiple submitters cataract 1 multiple types
  • p.Trp45Leu Multiple submitters cataract 1 multiple types
  • p.Trp45Ser Multiple submitters GJA8-related disorders
  • p.Val64Ala Multiple submitters cataract 1 multiple types

Likely pathogenic 31

  • p.Arg76His Multiple submitters cataract 1 multiple types
  • p.Gly22Arg Multiple submitters GJA8-related disorders
  • p.Ile31fs Multiple submitters GJA8-related disorders
  • p.Pro88Gln Multiple submitters cataract 1 multiple types
  • p.Thr39Lys Multiple submitters cataract 1 multiple types
  • p.Ala256fs Single submitter cataract 1 multiple types
  • p.Ala41Pro Single submitter cataract 1 multiple types
  • p.Arg23Thr Single submitter cataract 1 multiple types ⚠
  • p.Arg76Pro Single submitter GJA8-related disorders
  • p.Asn55Tyr Single submitter cataract 1 multiple types
  • p.Asp51Tyr Single submitter Inborn genetic diseases
  • p.Glu144_Leu148del Single submitter cataract 1 multiple types
  • p.Gly22Cys Single submitter cataract 1 multiple types
  • p.Gly60Arg Single submitter cataract 1 multiple types
  • p.Gly60Asp Single submitter cataract 1 multiple types
  • p.Ile31Thr Single submitter cataract 1 multiple types
  • p.Ile34Thr Single submitter cataract 1 multiple types
  • p.Leu80Met Single submitter Inborn genetic diseases
  • p.Phe70Val Single submitter
  • p.Pro59Ala Single submitter cataract 1 multiple types
  • p.Pro59Arg Single submitter cataract 1 multiple types
  • p.Pro59Ser Single submitter microphthalmia
  • p.Pro88Arg Single submitter cataract 1 multiple types
  • p.Ser73Phe Single submitter cataract 1 multiple types
  • p.Ser73Pro Single submitter cataract 1 multiple types
  • p.Thr203fs Single submitter cataract 1 multiple types
  • p.Thr56Pro Single submitter cataract 1 multiple types
  • p.Val100Asp Single submitter GJA8-related disorders
  • p.Val79Leu Single submitter cataract 1 multiple types
  • p.Gln394fs No assertion criteria GJA8-related disorder
  • p.His169fs No assertion criteria GJA8-related disorder

Conflicting classifications of pathogenicity 26

Benign 8

Benign/Likely benign 5

  • p.Asn298Ser Multiple submitters cataract 1 multiple types
  • p.Glu368Gln Multiple submitters cataract 1 multiple types
  • p.Ile247Met Multiple submitters cataract 1 multiple types
  • p.Leu147= Multiple submitters cataract 1 multiple types
  • p.Val129Ile Multiple submitters cataract 1 multiple types

Likely benign 34

  • p.Asn220Asp Multiple submitters chromosome 1q21.1 deletion syndrome
  • p.Ser135= Multiple submitters cataract 1 multiple types
  • p.Ala111= Single submitter cataract 1 multiple types
  • p.Arg142= Single submitter cataract 1 multiple types
  • p.Arg176= Single submitter cataract 1 multiple types
  • p.Arg233Gln Single submitter
  • p.Asp311= Single submitter cataract 1 multiple types
  • p.Cys61= Single submitter
  • p.Gln49= Single submitter
  • p.Glu332Lys Single submitter cataract 1 multiple types
  • p.Glu343Lys Single submitter cataract 1 multiple types
  • p.Gly137= Single submitter cataract 1 multiple types
  • p.Gly335Glu Single submitter Inborn genetic diseases
  • p.Gly60= Single submitter cataract 1 multiple types
  • p.Ile247= Single submitter
  • p.Leu207= Single submitter
  • p.Leu217= Single submitter
  • p.Leu252= Single submitter cataract 1 multiple types
  • p.Leu396= Single submitter
  • p.Leu416= Single submitter cataract 1 multiple types
  • p.Leu90= Single submitter cataract 1 multiple types
  • p.Pro344= Single submitter
  • p.Pro88= Single submitter cataract 1 multiple types
  • p.Ser388Ala Single submitter Inborn genetic diseases
  • p.Ser424= Single submitter cataract 1 multiple types
  • p.Ser50= Single submitter cataract 1 multiple types
  • p.Thr120Ala Single submitter Inborn genetic diseases
  • p.Thr39= Single submitter cataract 1 multiple types
  • p.Val326= Single submitter cataract 1 multiple types
  • p.Val433Ile Single submitter Inborn genetic diseases
  • c.-9G>T No assertion criteria GJA8-related disorder
  • p.Ala365= No assertion criteria GJA8-related disorder
  • p.Glu48= No assertion criteria GJA8-related disorder
  • p.Thr159= No assertion criteria GJA8-related disorder

Uncertain significance 175