Sugi Variant

Sugi Variant/PLK4

PLK4 — 684 ClinVar variants

All ClinVar germline PLK4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 323 flagged for review →

19 Pathogenic · 4 Pathogenic/Likely pathogenic · 13 Likely pathogenic · 18 Conflicting · 21 Benign · 10 Benign/Likely benign · 248 Likely benign · 351 Uncertain significance

Full PLK4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 323

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 12

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

Predictors lean, ClinVar uncertain 258

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 258

Predictors split 53

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

All PLK4 variants

Pathogenic 19

Pathogenic/Likely pathogenic 4

  • p.Arg185Ter Multiple submitters PLK4-related disorder
  • p.Asn450fs Multiple submitters
  • p.Gln388fs Multiple submitters microcephaly and chorioretinopathy 2
  • p.Pro553fs Multiple submitters microcephaly and chorioretinopathy 2

Likely pathogenic 13

Conflicting classifications of pathogenicity 18

Benign 21

Benign/Likely benign 10

Likely benign 248

Uncertain significance 351

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