Sugi Variant

Sugi Variant/ITGA8

ITGA8 — 461 ClinVar variants

All ClinVar germline ITGA8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 193 flagged for review →

12 Pathogenic · 1 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 3 Conflicting · 100 Benign · 8 Benign/Likely benign · 114 Likely benign · 213 Uncertain significance

Full ITGA8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 193

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 159

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 159

Predictors split 33

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

All ITGA8 variants

Pathogenic 12

Pathogenic/Likely pathogenic 1

  • c.2982+2T>C Multiple submitters renal hypodysplasia/aplasia 1

Likely pathogenic 10

Conflicting classifications of pathogenicity 3

Benign 100

Benign/Likely benign 8

Likely benign 114

Uncertain significance 213