Sugi Variant

Sugi Variant/ITPR3

ITPR3 — 682 ClinVar variants

All ClinVar germline ITPR3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 404 flagged for review →

3 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 8 Conflicting · 140 Benign · 8 Benign/Likely benign · 90 Likely benign · 429 Uncertain significance

Full ITPR3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 404

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 5

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

Predictors lean, ClinVar uncertain 238

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 238

Predictors split 161

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 161

All ITPR3 variants

Pathogenic 3

  • p.Ala196Thr No assertion criteria immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy ⚠
  • p.Ile2506Asn No assertion criteria immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy
  • p.Val615Met No assertion criteria Charcot-Marie-Tooth disease, demyelinating, type 1J ⚠

Pathogenic/Likely pathogenic 1

  • p.Thr1424Met Multiple submitters Charcot-Marie-Tooth disease, demyelinating, type 1J ⚠

Likely pathogenic 3

  • p.Arg2524His Single submitter immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy
  • p.Arg2524Ser Single submitter Charcot-Marie-Tooth disease, demyelinating, type 1J
  • c.3058+2T>C No assertion criteria familial long QT syndrome

Conflicting classifications of pathogenicity 8

Benign 140

Benign/Likely benign 8

Likely benign 90

Uncertain significance 429

Showing the top 300 by review status; the full set is in the sitemap.