Sugi Variant

Sugi Variant/GJA3

GJA3 — 293 ClinVar variants

All ClinVar germline GJA3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 129 flagged for review →

4 Pathogenic · 11 Pathogenic/Likely pathogenic · 25 Likely pathogenic · 10 Conflicting · 34 Benign · 8 Benign/Likely benign · 23 Likely benign · 178 Uncertain significance

Full GJA3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 129

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 9

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

Predictors lean, ClinVar uncertain 102

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

Predictors split 18

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

All GJA3 variants

Pathogenic 4

  • p.Asp47Gly Single submitter cataract 14 multiple types
  • p.Phe203Leu Single submitter cataract 14 multiple types
  • p.Pro59Ala Single submitter cataract 14 multiple types
  • p.Ser380fs Single submitter cataract 14 multiple types

Pathogenic/Likely pathogenic 11

  • p.Arg76Cys Multiple submitters cataract 14 multiple types
  • p.Arg76His Multiple submitters GJA3-related disorders
  • p.Asp3Tyr Multiple submitters cataract 14 multiple types
  • p.Asp47Asn Multiple submitters GJA3-related disorders
  • p.Glu62Lys Multiple submitters cataract 14 multiple types ⚠
  • p.Gly143Arg Multiple submitters cataract 14 multiple types
  • p.Gly22Ser Multiple submitters cataract 14 multiple types
  • p.Pro59Leu Multiple submitters GJA3-related disorders
  • p.Thr19Met Multiple submitters cataract 14 multiple types
  • p.Thr87Met Multiple submitters Bilateral congenital or childhood onset cataracts
  • p.Val44Met Multiple submitters cataract 14 multiple types

Likely pathogenic 25

  • p.Arg33Leu Multiple submitters cataract 14 multiple types
  • p.Asp51His Multiple submitters cataract 14 multiple types
  • p.Asn188Thr Single submitter cataract 14 multiple types
  • p.Asn63Ser Single submitter cataract 14 multiple types
  • p.Glu48Gly Single submitter cataract 14 multiple types
  • p.Gly22Val Single submitter cataract 14 multiple types
  • p.Gly2Asp Single submitter cataract 14 multiple types
  • p.Gly38Glu Single submitter cataract 14 multiple types
  • p.Gly60Ser Single submitter cataract 14 multiple types
  • p.His318fs Single submitter cataract 14 multiple types
  • p.Leu11Ser Single submitter cataract 14 multiple types
  • p.Met1Val Single submitter cataract 14 multiple types
  • p.Phe32Leu Single submitter cataract 14 multiple types ⚠
  • p.Pro187Leu Single submitter cataract 14 multiple types ⚠
  • p.Pro361fs Single submitter
  • p.Pro59Gln Single submitter
  • p.Ser195Phe Single submitter cataract 14 multiple types
  • p.Ser258fs Single submitter cataract 14 multiple types
  • p.Ser381fs Single submitter cataract 14 multiple types
  • p.Ser385fs Single submitter cataract 14 multiple types
  • p.Ser50Pro Single submitter cataract 14 multiple types
  • p.Thr390fs Single submitter cataract 14 multiple types
  • p.Thr400fs Single submitter cataract 14 multiple types
  • p.Trp45Ser Single submitter cataract 14 multiple types
  • p.Tyr66His Single submitter cataract 14 multiple types

Conflicting classifications of pathogenicity 10

Benign 34

  • c.*1083T>C Multiple submitters cataract 14 multiple types
  • c.*1257G>A Multiple submitters cataract 14 multiple types
  • c.*1997G>A Multiple submitters cataract 14 multiple types
  • c.*2231A>G Multiple submitters cataract 14 multiple types
  • c.*2426C>A Multiple submitters cataract 14 multiple types
  • c.*243G>A Multiple submitters cataract 14 multiple types
  • c.*2469T>C Multiple submitters cataract 14 multiple types
  • c.*2593A>T Multiple submitters cataract 14 multiple types
  • c.*2602T>C Multiple submitters cataract 14 multiple types
  • c.*2831A>G Multiple submitters cataract 14 multiple types
  • c.*2864T>C Multiple submitters cataract 14 multiple types
  • c.*3166C>T Multiple submitters cataract 14 multiple types
  • c.*319G>T Multiple submitters cataract 14 multiple types
  • c.*509A>G Multiple submitters cataract 14 multiple types
  • c.*618G>A Multiple submitters cataract 14 multiple types
  • p.Ala339= Multiple submitters cataract 14 multiple types
  • p.Arg133Gln Multiple submitters cataract 14 multiple types
  • p.Cys181= Multiple submitters cataract 14 multiple types
  • p.Leu299Met Multiple submitters cataract 14 multiple types
  • p.Leu362= Multiple submitters cataract 14 multiple types
  • p.Leu411= Multiple submitters cataract 14 multiple types
  • c.-17-299G>A Single submitter
  • c.-60G>A Single submitter cataract 14 multiple types
  • c.*1351C>T Single submitter cataract 14 multiple types
  • c.*186TG[1] Single submitter
  • c.*1957G>C Single submitter cataract 14 multiple types
  • c.*223T>G Single submitter cataract 14 multiple types
  • c.*2416A>G Single submitter cataract 14 multiple types
  • c.*2870C>T Single submitter cataract 14 multiple types
  • c.*358T>C Single submitter cataract 14 multiple types
  • c.*491T>A Single submitter cataract 14 multiple types
  • c.*581A>G Single submitter cataract 14 multiple types
  • c.*904G>T Single submitter cataract 14 multiple types
  • p.Phe77= Single submitter cataract 14 multiple types

Benign/Likely benign 8

  • c.*47A>G Multiple submitters cataract 14 multiple types
  • p.Ala371Thr Multiple submitters cataract 14 multiple types
  • p.Gly412Arg Multiple submitters cataract 14 multiple types
  • p.Pro125= Multiple submitters cataract 14 multiple types
  • p.Pro257= Multiple submitters cataract 14 multiple types
  • p.Pro361= Multiple submitters cataract 14 multiple types
  • p.Thr87= Multiple submitters cataract 14 multiple types
  • p.Val28= Multiple submitters cataract 14 multiple types

Likely benign 23

Uncertain significance 178