Sugi Variant

Sugi Variant/REN

REN — 237 ClinVar variants

All ClinVar germline REN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 109 flagged for review →

7 Pathogenic · 2 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 18 Conflicting · 22 Benign · 6 Benign/Likely benign · 50 Likely benign · 125 Uncertain significance

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

⚑ Evidence disagreements 109

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 7

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

Predictors lean, ClinVar uncertain 79

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

Predictors split 22

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

All REN variants

Pathogenic 7

  • p.Lys139Ter Multiple submitters Inborn genetic diseases
  • p.Arg43Ter Single submitter familial juvenile hyperuricemic nephropathy type 2
  • p.Leu318fs Single submitter
  • p.Arg230Lys No assertion criteria renal tubular dysgenesis ⚠
  • p.Arg387Ter No assertion criteria HYPERPRORENINEMIA, FAMILIAL
  • p.Lys100fs No assertion criteria renal tubular dysgenesis
  • p.Ser135Tyr No assertion criteria renal tubular dysgenesis

Pathogenic/Likely pathogenic 2

  • c.249+1G>A Multiple submitters familial juvenile hyperuricemic nephropathy type 2
  • p.Arg49Ter Multiple submitters renal tubular dysgenesis of genetic origin

Likely pathogenic 7

  • c.249+1G>T Single submitter
  • c.250-1del Single submitter renal tubular dysgenesis of genetic origin
  • p.Ile262fs Single submitter REN-related disorder
  • p.Thr391fs Single submitter renal tubular dysgenesis of genetic origin
  • p.Leu361fs No assertion criteria familial juvenile hyperuricemic nephropathy type 2
  • p.Met39Lys No assertion criteria
  • p.Trp267fs No assertion criteria renal tubular dysgenesis

Conflicting classifications of pathogenicity 18

Benign 22

Benign/Likely benign 6

Likely benign 50

Uncertain significance 125