Sugi Variant

Sugi Variant/GOLGA2

GOLGA2 — 248 ClinVar variants

All ClinVar germline GOLGA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 156 flagged for review →

7 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 5 Conflicting · 2 Benign · 2 Benign/Likely benign · 73 Likely benign · 155 Uncertain significance

Full GOLGA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 156

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 126

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

Predictors split 25

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

All GOLGA2 variants

Pathogenic 7

  • p.Asn218fs Single submitter
  • p.Glu528Ter Single submitter
  • p.Leu374fs Single submitter developmental delay with hypotonia, myopathy, and brain abnormalities
  • p.Lys205fs Single submitter
  • p.Lys685fs Single submitter developmental delay with hypotonia, myopathy, and brain abnormalities
  • p.Arg559fs No assertion criteria developmental delay with hypotonia, myopathy, and brain abnormalities
  • p.Glu450fs No assertion criteria developmental delay with hypotonia, myopathy, and brain abnormalities

Pathogenic/Likely pathogenic 1

  • p.Gln192Ter Multiple submitters developmental delay with hypotonia, myopathy, and brain abnormalities

Likely pathogenic 3

  • c.2718+2T>C Single submitter
  • p.Gln778Ter Single submitter neuromuscular disease
  • p.Leu499= Single submitter developmental delay with hypotonia, myopathy, and brain abnormalities

Conflicting classifications of pathogenicity 5

Benign 2

Benign/Likely benign 2

Likely benign 73

Uncertain significance 155