Sugi Variant

Sugi Variant/REN

REN — 223 ClinVar variants

All ClinVar germline REN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 116 flagged for review →

7 Pathogenic · 2 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 17 Conflicting · 25 Benign · 3 Benign/Likely benign · 42 Likely benign · 121 Uncertain significance

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

⚑ Evidence disagreements 116

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 4

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

Predictors lean, ClinVar uncertain 59

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

Predictors split 52

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 familial juvenile hyperuricemic nephropathy type 2

Likely pathogenic 6

  • c.249+1G>T Single submitter
  • c.250-1del Single submitter renal tubular dysgenesis of genetic origin
  • 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 17

  • c.374-13G>A Single submitter renal tubular dysgenesis
  • c.492+12C>T Single submitter familial juvenile hyperuricemic nephropathy type 2
  • c.961-12C>A Single submitter renal tubular dysgenesis
  • c.961-5C>A Single submitter renal tubular dysgenesis
  • p.Arg396His Single submitter Inborn genetic diseases ⚠
  • p.Asp248Glu Single submitter renal tubular dysgenesis ⚠
  • p.Asp285= Single submitter renal tubular dysgenesis
  • p.Glu189Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu221= Single submitter familial juvenile hyperuricemic nephropathy type 2
  • p.Lys359Ile Single submitter renal tubular dysgenesis ⚠
  • p.Phe130= Single submitter renal tubular dysgenesis
  • p.Phe210= Single submitter renal tubular dysgenesis
  • p.Pro373Leu Single submitter renal tubular dysgenesis ⚠
  • p.Ser108Ala Single submitter familial juvenile hyperuricemic nephropathy type 2 ⚠
  • p.Ser133Leu Single submitter renal tubular dysgenesis ⚠
  • p.Ser237Leu Single submitter Inborn genetic diseases ⚠
  • p.Thr344= Single submitter renal tubular dysgenesis

Benign 25

Benign/Likely benign 3

Likely benign 42

Uncertain significance 121