Sugi Variant

Sugi Variant/PRDM13

PRDM13 — 537 ClinVar variants

All ClinVar germline PRDM13 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 318 flagged for review →

4 Pathogenic · 3 Likely pathogenic · 15 Conflicting · 4 Benign · 11 Benign/Likely benign · 165 Likely benign · 335 Uncertain significance

Full PRDM13 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 318

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 11

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

Predictors lean, ClinVar uncertain 241

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 241

Predictors split 66

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

All PRDM13 variants

Pathogenic 4

  • c.398-2_408del No assertion criteria cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism
  • p.Ala280fs No assertion criteria pontocerebellar hypoplasia, IIA 17
  • p.Gly267fs No assertion criteria pontocerebellar hypoplasia, IIA 17
  • p.Val282fs No assertion criteria pontocerebellar hypoplasia, IIA 17

Likely pathogenic 3

  • p.Glu521fs Single submitter PRDM13-related disorder
  • p.Gly417Ter Single submitter pontocerebellar hypoplasia, IIA 17
  • p.Tyr471Ter Single submitter cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism

Conflicting classifications of pathogenicity 15

Benign 4

Benign/Likely benign 11

Likely benign 165

Uncertain significance 335

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