Sugi Variant

Sugi Variant/POLR1D

POLR1D — 121 ClinVar variants

All ClinVar germline POLR1D variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →

8 Pathogenic · 1 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 3 Conflicting · 13 Benign · 1 Benign/Likely benign · 21 Likely benign · 63 Uncertain significance

Full POLR1D gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 50

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 40

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

Predictors split 9

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

All POLR1D variants

Pathogenic 8

  • p.Arg37fs Single submitter
  • p.Ser78fs Single submitter Treacher Collins syndrome 2
  • p.Tyr57Ter Single submitter
  • p.Gln31fs No assertion criteria Treacher Collins syndrome 2
  • p.Gly88fs No assertion criteria Treacher Collins syndrome 2
  • p.His109fs No assertion criteria Treacher Collins syndrome 2
  • p.Leu51Arg No assertion criteria Treacher Collins syndrome 2
  • p.Leu55Val No assertion criteria Treacher Collins syndrome 2

Pathogenic/Likely pathogenic 1

  • p.Arg87Ter Multiple submitters POLR1D-related disorder

Likely pathogenic 11

  • p.Gly21fs Multiple submitters Treacher Collins syndrome 2
  • p.Glu47Lys Single submitter Treacher Collins syndrome 2
  • p.Gly34fs Single submitter
  • p.His74fs Single submitter Treacher Collins syndrome 2
  • p.Ile11fs Single submitter Treacher Collins syndrome 2
  • p.Ser76Ter Single submitter Treacher Collins syndrome 2
  • p.Thr50Ile Single submitter POLR1D-related disorder
  • p.Thr89fs Single submitter POLR1D-related disorder
  • p.Val30fs Single submitter Treacher Collins syndrome 2
  • p.Val40fs Single submitter POLR1D-related disorder
  • p.Leu44fs No assertion criteria POLR1D-related disorder

Conflicting classifications of pathogenicity 3

Benign 13

Benign/Likely benign 1

Likely benign 21

Uncertain significance 63