Sugi Variant

Sugi Variant/NEDD4L

NEDD4L — 1084 ClinVar variants

All ClinVar germline NEDD4L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 364 flagged for review →

2 Pathogenic · 2 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 49 Conflicting · 136 Benign · 33 Benign/Likely benign · 502 Likely benign · 355 Uncertain significance

Full NEDD4L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 364

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 31

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 204

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 204

Predictors split 128

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

All NEDD4L variants

Pathogenic 2

  • p.Gln694His No assertion criteria periventricular nodular heterotopia 7
  • p.Tyr679Cys No assertion criteria periventricular nodular heterotopia 7

Pathogenic/Likely pathogenic 2

  • p.Arg208Gln Multiple submitters periventricular nodular heterotopia 7
  • p.Glu893Lys Multiple submitters chromosome 5Q14.3 deletion syndrome, distal

Likely pathogenic 5

  • p.Met749Val Multiple submitters periventricular nodular heterotopia 7
  • c.1126-1G>A Single submitter periventricular nodular heterotopia 7
  • c.814-6T>A Single submitter periventricular nodular heterotopia 7
  • p.Glu619Gln Single submitter periventricular nodular heterotopia 7
  • p.Trp814Ter Single submitter

Conflicting classifications of pathogenicity 49

Benign 136

Benign/Likely benign 33

Likely benign 502

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

Uncertain significance 355

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