Sugi Variant

Sugi Variant/MIA3

MIA3 — 319 ClinVar variants

All ClinVar germline MIA3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 261 flagged for review →

1 Pathogenic · 2 Likely pathogenic · 1 Conflicting · 2 Benign · 51 Likely benign · 262 Uncertain significance

Full MIA3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 261

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 1

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

Predictors lean, ClinVar uncertain 236

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 236

Predictors split 24

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

All MIA3 variants

Pathogenic 1

  • p.Arg1207= No assertion criteria ODONTOCHONDRODYSPLASIA WITH HEARING LOSS AND DIABETES

Likely pathogenic 2

  • c.3720+1G>A Single submitter odontochondrodysplasia 2 with hearing loss and diabetes
  • c.354+2T>G No assertion criteria Odontochondrodysplasia2 with hearing loss and diabetes

Conflicting classifications of pathogenicity 1

Benign 2

Likely benign 51

Uncertain significance 262