Sugi Variant

Sugi Variant/JAM3

JAM3 — 232 ClinVar variants

All ClinVar germline JAM3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 82 flagged for review →

10 Pathogenic · 5 Likely pathogenic · 2 Conflicting · 34 Benign · 3 Benign/Likely benign · 82 Likely benign · 96 Uncertain significance

Full JAM3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 82

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 2

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 15

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

All JAM3 variants

Pathogenic 10

  • c.612+1G>T Multiple submitters porencephaly-microcephaly-bilateral congenital cataract syndrome
  • p.Tyr77fs Multiple submitters porencephaly-microcephaly-bilateral congenital cataract syndrome
  • c.410-1G>A Single submitter porencephaly-microcephaly-bilateral congenital cataract syndrome
  • p.Arg120Ter Single submitter
  • p.Asn192fs Single submitter
  • p.Glu116Lys Single submitter porencephaly-microcephaly-bilateral congenital cataract syndrome
  • p.Met1Val Single submitter porencephaly-microcephaly-bilateral congenital cataract syndrome
  • p.Val249fs Single submitter
  • p.Cys219Tyr No assertion criteria porencephaly-microcephaly-bilateral congenital cataract syndrome
  • p.Met1Arg No assertion criteria porencephaly-microcephaly-bilateral congenital cataract syndrome

Likely pathogenic 5

  • c.256+1260G>C Single submitter porencephaly-microcephaly-bilateral congenital cataract syndrome
  • p.Cys230Trp Single submitter porencephaly-microcephaly-bilateral congenital cataract syndrome
  • p.Gln136Ter Single submitter porencephaly-microcephaly-bilateral congenital cataract syndrome
  • p.Met1Lys Single submitter porencephaly-microcephaly-bilateral congenital cataract syndrome
  • p.Thr76_Tyr77insTer Single submitter porencephaly-microcephaly-bilateral congenital cataract syndrome

Conflicting classifications of pathogenicity 2

  • p.Asn292Lys Single submitter porencephaly-microcephaly-bilateral congenital cataract syndrome ⚠
  • p.Pro151Thr Single submitter Inborn genetic diseases ⚠

Benign 34

Benign/Likely benign 3

Likely benign 82

Uncertain significance 96