Sugi Variant

Sugi Variant/PDZD7

PDZD7 — 1124 ClinVar variants

All ClinVar germline PDZD7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 518 flagged for review →

56 Pathogenic · 15 Pathogenic/Likely pathogenic · 31 Likely pathogenic · 41 Conflicting · 53 Benign · 21 Benign/Likely benign · 345 Likely benign · 562 Uncertain significance

Full PDZD7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 518

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 14

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

Predictors lean, ClinVar uncertain 402

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 402

Predictors split 101

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

All PDZD7 variants

Pathogenic 56

Pathogenic/Likely pathogenic 15

  • c.1933+1G>A Multiple submitters hearing loss, autosomal recessive 57
  • p.Ala553fs Multiple submitters PDZD7-related disorder
  • p.Ala697fs Multiple submitters PDZD7-related disorder
  • p.Arg309Ter Multiple submitters Autosomal recessive PDZD7-related disorders
  • p.Arg59Ter Multiple submitters PDZD7-related disorder
  • p.Cys331Ter Multiple submitters
  • p.Gln515Ter Multiple submitters hearing loss, autosomal recessive 57
  • p.Gln737fs Multiple submitters PDZD7-related disorder
  • p.Glu442Ter Multiple submitters PDZD7-related disorder
  • p.Ile84Thr Multiple submitters hearing loss, autosomal recessive 57 ⚠
  • p.Leu307fs Multiple submitters hearing loss, autosomal recessive 57
  • p.Leu717fs Multiple submitters PDZD7-related disorder
  • p.Leu728fs Multiple submitters PDZD7-related disorder
  • p.Thr372fs Multiple submitters
  • p.Tyr337Ter Multiple submitters PDZD7-related disorder

Likely pathogenic 31

Conflicting classifications of pathogenicity 41

Benign 53

Benign/Likely benign 21

Likely benign 345

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

Uncertain significance 562

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