Sugi Variant

Sugi Variant/PLD1

PLD1 — 365 ClinVar variants

All ClinVar germline PLD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 194 flagged for review →

15 Pathogenic · 2 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 12 Conflicting · 71 Benign · 1 Benign/Likely benign · 65 Likely benign · 187 Uncertain significance

Full PLD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 194

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 4

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

Predictors lean, ClinVar uncertain 103

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

Predictors split 87

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

All PLD1 variants

Pathogenic 15

Pathogenic/Likely pathogenic 2

Likely pathogenic 12

  • p.Tyr894Ser Multiple submitters
  • c.1061+1G>A Single submitter cardiac valvular defect, developmental
  • c.1062-2A>T Single submitter cardiac valvular defect, developmental
  • c.1753+1G>A Single submitter
  • p.Arg675Trp Single submitter cardiac valvular defect, developmental
  • p.Arg695Cys Single submitter
  • p.Gln868Ter Single submitter cardiac valvular defect, developmental
  • p.Glu780Lys Single submitter
  • p.His570fs Single submitter cardiac valvular defect, developmental
  • p.Thr495fs Single submitter cardiac valvular defect, developmental
  • p.Val468Asp Single submitter cardiac valvular defect, developmental
  • p.Ser167fs No assertion criteria cardiac valvular defect, developmental

Conflicting classifications of pathogenicity 12

Benign 71

Benign/Likely benign 1

Likely benign 65

Uncertain significance 187