Sugi Variant

Sugi Variant/SLC39A7

SLC39A7 — 259 ClinVar variants

All ClinVar germline SLC39A7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 109 flagged for review →

3 Pathogenic · 3 Likely pathogenic · 4 Conflicting · 6 Benign · 4 Benign/Likely benign · 111 Likely benign · 128 Uncertain significance

Full SLC39A7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 109

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 4

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

Predictors lean, ClinVar uncertain 84

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

Predictors split 21

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

All SLC39A7 variants

Pathogenic 3

  • p.Leu217Pro Single submitter agammaglobulinemia 9, autosomal recessive
  • p.Pro190Ala Single submitter agammaglobulinemia 9, autosomal recessive
  • p.Glu363Lys No assertion criteria agammaglobulinemia 9, autosomal recessive

Likely pathogenic 3

  • p.Arg290Ter Single submitter agammaglobulinemia 9, autosomal recessive
  • p.Gln372Ter Single submitter agammaglobulinemia 9, autosomal recessive
  • p.Trp18Ter Single submitter

Conflicting classifications of pathogenicity 4

Benign 6

Benign/Likely benign 4

Likely benign 111

Uncertain significance 128