Sugi Variant

Sugi Variant/DENND5A

DENND5A — 752 ClinVar variants

All ClinVar germline DENND5A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 276 flagged for review →

16 Pathogenic · 1 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 9 Conflicting · 11 Benign · 14 Benign/Likely benign · 385 Likely benign · 300 Uncertain significance

Full DENND5A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 276

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 5

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

Predictors lean, ClinVar uncertain 183

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 183

Predictors split 87

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

All DENND5A variants

Pathogenic 16

Pathogenic/Likely pathogenic 1

  • p.Arg772Ter Multiple submitters developmental and epileptic encephalopathy, 49

Likely pathogenic 16

Conflicting classifications of pathogenicity 9

Benign 11

Benign/Likely benign 14

Likely benign 385

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

Uncertain significance 300