Sugi Variant

Sugi Variant/POLR1A

POLR1A — 1045 ClinVar variants

All ClinVar germline POLR1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 503 flagged for review →

3 Pathogenic · 7 Likely pathogenic · 26 Conflicting · 68 Benign · 10 Benign/Likely benign · 369 Likely benign · 562 Uncertain significance

Full POLR1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 503

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 16

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

Predictors lean, ClinVar uncertain 411

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 411

Predictors split 76

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

All POLR1A variants

Pathogenic 3

  • p.Thr786Ile Single submitter leukodystrophy, hypomyelinating, 27
  • p.Arg843Ter No assertion criteria acrofacial dysostosis Cincinnati type
  • p.Gln1217fs No assertion criteria acrofacial dysostosis Cincinnati type

Likely pathogenic 7

  • p.Arg310Cys Single submitter POLR1A-related disorder
  • p.Arg722Ter Single submitter acrofacial dysostosis Cincinnati type
  • p.Cys1562Phe Single submitter acrofacial dysostosis Cincinnati type
  • p.Cys64fs Single submitter acrofacial dysostosis Cincinnati type
  • p.Glu1433Ter Single submitter leukodystrophy, hypomyelinating, 27
  • p.Ser756fs Single submitter
  • p.Tyr792fs Single submitter

Conflicting classifications of pathogenicity 26

Benign 68

Benign/Likely benign 10

Likely benign 369

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

Uncertain significance 562

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