Sugi Variant

Sugi Variant/PRDM5

PRDM5 — 830 ClinVar variants

All ClinVar germline PRDM5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 277 flagged for review →

26 Pathogenic · 7 Pathogenic/Likely pathogenic · 27 Likely pathogenic · 41 Conflicting · 49 Benign · 15 Benign/Likely benign · 382 Likely benign · 283 Uncertain significance

Full PRDM5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 277

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 17

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

Predictors lean, ClinVar uncertain 184

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 184

Predictors split 76

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

All PRDM5 variants

Pathogenic 26

Pathogenic/Likely pathogenic 7

  • p.Arg232Ter Multiple submitters brittle cornea syndrome 2
  • p.Arg505fs Multiple submitters Cardiovascular phenotype
  • p.Cys378fs Multiple submitters PRDM5-related disorder
  • p.Gln420Ter Multiple submitters brittle cornea syndrome 2
  • p.Gln556Ter Multiple submitters Cardiovascular phenotype
  • p.Glu103Ter Multiple submitters brittle cornea syndrome 2
  • p.Glu344Ter Multiple submitters brittle cornea syndrome 2

Likely pathogenic 27

Conflicting classifications of pathogenicity 41

Benign 49

Benign/Likely benign 15

Likely benign 382

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

Uncertain significance 283