Sugi Variant

Sugi Variant/GJA5

GJA5 — 299 ClinVar variants

All ClinVar germline GJA5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 168 flagged for review →

6 Pathogenic · 9 Conflicting · 4 Benign · 3 Benign/Likely benign · 76 Likely benign · 201 Uncertain significance

Full GJA5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 168

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.

Predictors lean, ClinVar uncertain 138

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

Predictors split 24

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

All GJA5 variants

Pathogenic 6

  • p.Gly8fs Single submitter atrial fibrillation, familial, 11
  • p.Met1Ile Single submitter atrial standstill 1
  • p.Gln49Ter No assertion criteria atrial fibrillation, familial, 11
  • p.Leu229Met No assertion criteria atrial fibrillation, familial, 11
  • p.Pro88Ser No assertion criteria Atrial fibrillation, somatic
  • p.Val85Ile No assertion criteria atrial fibrillation, familial, 11 ⚠

Conflicting classifications of pathogenicity 9

Benign 4

Benign/Likely benign 3

  • c.-27T>C Multiple submitters atrial fibrillation, familial, 11
  • p.Arg242= Multiple submitters atrial standstill 1
  • p.Tyr123= Multiple submitters atrial standstill 1

Likely benign 76

  • c.*608C>T Single submitter
  • p.Ala144= Single submitter atrial standstill 1
  • p.Ala213= Single submitter atrial standstill 1
  • p.Ala215= Single submitter atrial standstill 1
  • p.Ala246= Single submitter atrial standstill 1
  • p.Ala288= Single submitter atrial fibrillation, familial, 11
  • p.Ala41= Single submitter atrial standstill 1
  • p.Arg109= Single submitter atrial standstill 1
  • p.Arg187= Single submitter atrial standstill 1
  • p.Arg316= Single submitter atrial fibrillation, familial, 11
  • p.Asn325= Single submitter atrial standstill 1
  • p.Asp266= Single submitter atrial standstill 1
  • p.Asp355= Single submitter atrial standstill 1
  • p.Gln103= Single submitter atrial fibrillation, familial, 11
  • p.Gln146= Single submitter atrial standstill 1
  • p.Gln171= Single submitter atrial standstill 1
  • p.Gln290= Single submitter atrial standstill 1
  • p.Gln49= Single submitter atrial standstill 1
  • p.Glu112= Single submitter atrial standstill 1
  • p.Glu12= Single submitter atrial standstill 1
  • p.Glu129= Single submitter atrial fibrillation, familial, 11
  • p.Glu138= Single submitter atrial standstill 1
  • p.Gly170= Single submitter atrial fibrillation, familial, 11
  • p.Gly326= Single submitter atrial standstill 1
  • p.Gly46= Single submitter atrial standstill 1
  • p.Gly8= Single submitter atrial standstill 1
  • p.His338= Single submitter atrial fibrillation, familial, 11
  • p.Ile313= Single submitter atrial fibrillation, familial, 11
  • p.Ile82= Single submitter atrial standstill 1
  • p.Leu133= Single submitter atrial fibrillation, familial, 11
  • p.Leu145= Single submitter atrial fibrillation, familial, 11
  • p.Leu149= Single submitter atrial fibrillation, familial, 11
  • p.Leu150= Single submitter atrial standstill 1
  • p.Leu179= Single submitter atrial standstill 1
  • p.Leu182= Single submitter atrial standstill 1
  • p.Leu226= Single submitter atrial standstill 1
  • p.Leu229= Single submitter atrial standstill 1
  • p.Leu271= Single submitter atrial standstill 1
  • p.Leu35= Single submitter atrial standstill 1
  • p.Leu37= Single submitter atrial standstill 1
  • p.Leu90= Single submitter atrial standstill 1
  • p.Lys232= Single submitter atrial standstill 1
  • p.Lys341= Single submitter atrial fibrillation, familial, 11
  • p.Phe10= Single submitter atrial standstill 1
  • p.Pro126= Single submitter atrial standstill 1
  • p.Pro189= Single submitter atrial standstill 1
  • p.Pro193= Single submitter atrial fibrillation, familial, 11
  • p.Pro241= Single submitter atrial fibrillation, familial, 11
  • p.Pro265= Single submitter atrial standstill 1
  • p.Pro321= Single submitter atrial fibrillation, familial, 11
  • p.Pro71= Single submitter atrial standstill 1
  • p.Ser18= Single submitter atrial fibrillation, familial, 11
  • p.Ser260= Single submitter atrial standstill 1
  • p.Ser289= Single submitter atrial standstill 1
  • p.Ser357= Single submitter atrial standstill 1
  • p.Ser86= Single submitter atrial standstill 1
  • p.Thr148= Single submitter atrial fibrillation, familial, 11
  • p.Thr181= Single submitter atrial standstill 1
  • p.Thr19= Single submitter atrial standstill 1
  • p.Thr27= Single submitter atrial standstill 1
  • p.Thr39= Single submitter atrial standstill 1
  • p.Thr56= Single submitter atrial standstill 1
  • p.Thr87= Single submitter atrial standstill 1
  • p.Thr99= Single submitter atrial standstill 1
  • p.Tyr172= Single submitter atrial standstill 1
  • p.Tyr175= Single submitter atrial standstill 1
  • p.Tyr197= Single submitter atrial standstill 1
  • p.Tyr227= Single submitter atrial standstill 1
  • p.Val117= Single submitter atrial standstill 1
  • p.Val127= Single submitter atrial standstill 1
  • p.Val206= Single submitter atrial standstill 1
  • p.Val255= Single submitter atrial standstill 1
  • p.Val297= Single submitter atrial fibrillation, familial, 11
  • p.Val301= Single submitter atrial standstill 1
  • p.Val315= Single submitter atrial standstill 1
  • p.Val85= Single submitter atrial fibrillation, familial, 11

Uncertain significance 201