Sugi Variant

Sugi Variant/ORAI1

ORAI1 — 95 ClinVar variants

All ClinVar germline ORAI1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →

3 Pathogenic · 6 Likely pathogenic · 4 Conflicting · 11 Benign · 2 Benign/Likely benign · 21 Likely benign · 48 Uncertain significance

Full ORAI1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 42

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 3

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

Predictors lean, ClinVar uncertain 25

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

Predictors split 14

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

All ORAI1 variants

Pathogenic 3

  • c.493dup Single submitter combined immunodeficiency due to ORAI1 deficiency
  • p.Ala103Glu No assertion criteria combined immunodeficiency due to ORAI1 deficiency
  • p.Pro245Leu No assertion criteria myopathy, tubular aggregate, 2

Likely pathogenic 6

  • p.Arg268Ter Multiple submitters combined immunodeficiency due to ORAI1 deficiency
  • p.Leu194Pro Multiple submitters myopathy, tubular aggregate, 2
  • n.906_909dup Single submitter combined immunodeficiency due to ORAI1 deficiency
  • p.His169fs Single submitter combined immunodeficiency due to ORAI1 deficiency
  • p.Ile251Tyrfs Single submitter myopathy, tubular aggregate, 2
  • p.Ser260Leufs Single submitter

Conflicting classifications of pathogenicity 4

  • p.Cys126Arg Single submitter combined immunodeficiency due to ORAI1 deficiency ⚠
  • p.Leu138Phe Single submitter myopathy, tubular aggregate, 2 ⚠
  • p.Pro46fs Single submitter ORAI1-related disorder
  • p.Val131Met Single submitter myopathy, tubular aggregate, 2 ⚠

Benign 11

Benign/Likely benign 2

  • p.Thr180= Multiple submitters myopathy, tubular aggregate, 2
  • p.Val192= Multiple submitters myopathy, tubular aggregate, 2

Likely benign 21

  • p.Ala137= Multiple submitters combined immunodeficiency due to ORAI1 deficiency
  • p.Asn223Ser Multiple submitters combined immunodeficiency due to ORAI1 deficiency
  • p.Pro296= Multiple submitters combined immunodeficiency due to ORAI1 deficiency
  • p.Tyr80= Multiple submitters combined immunodeficiency due to ORAI1 deficiency
  • p.Ala254= Single submitter myopathy, tubular aggregate, 2
  • p.Ala94= Single submitter myopathy, tubular aggregate, 2
  • p.Gln269= Single submitter combined immunodeficiency due to ORAI1 deficiency
  • p.Gly219= Single submitter myopathy, tubular aggregate, 2
  • p.His256= Single submitter ORAI1-related disorder
  • p.Phe123= Single submitter combined immunodeficiency due to ORAI1 deficiency
  • p.Phe136= Single submitter myopathy, tubular aggregate, 2
  • p.Phe250= Single submitter combined immunodeficiency due to ORAI1 deficiency
  • p.Pro164= Single submitter combined immunodeficiency due to ORAI1 deficiency
  • p.Pro245= Single submitter combined immunodeficiency due to ORAI1 deficiency
  • p.Thr128= Single submitter combined immunodeficiency due to ORAI1 deficiency
  • p.Thr142= Single submitter myopathy, tubular aggregate, 2
  • p.Thr184= Single submitter myopathy, tubular aggregate, 2
  • p.Val102= Single submitter myopathy, tubular aggregate, 2
  • p.Val133= Single submitter combined immunodeficiency due to ORAI1 deficiency
  • p.Val197= Single submitter myopathy, tubular aggregate, 2
  • p.Val255Ile Single submitter combined immunodeficiency due to ORAI1 deficiency

Uncertain significance 48