Sugi Variant

Sugi Variant/AGTR1

AGTR1 — 178 ClinVar variants

All ClinVar germline AGTR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 83 flagged for review →

4 Pathogenic · 1 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 5 Conflicting · 18 Benign · 2 Benign/Likely benign · 29 Likely benign · 111 Uncertain significance

Full AGTR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 83

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 2

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

Predictors lean, ClinVar uncertain 54

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

Predictors split 26

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

All AGTR1 variants

Pathogenic 4

Pathogenic/Likely pathogenic 1

  • p.Arg139Ter Multiple submitters renal tubular dysgenesis of genetic origin

Likely pathogenic 8

  • p.Asn200fs Multiple submitters renal tubular dysgenesis
  • p.Pro233fs Multiple submitters essential hypertension, genetic
  • p.Ala114fs Single submitter renal tubular dysgenesis of genetic origin
  • p.Arg126Ter Single submitter essential hypertension, genetic
  • p.Ile38fs Single submitter renal tubular dysgenesis
  • p.Phe293fs Single submitter renal tubular dysgenesis
  • p.Tyr113fs Single submitter renal tubular dysgenesis of genetic origin
  • p.Tyr56fs Single submitter renal tubular dysgenesis of genetic origin

Conflicting classifications of pathogenicity 5

  • c.-16G>A Single submitter renal tubular dysgenesis
  • c.-17C>T Single submitter essential hypertension, genetic
  • p.Arg140His Single submitter Inborn genetic diseases ⚠
  • p.Arg167Gln Single submitter essential hypertension, genetic ⚠
  • p.Thr336= Single submitter renal tubular dysgenesis

Benign 18

Benign/Likely benign 2

  • c.*86A>C Multiple submitters renal tubular dysgenesis of genetic origin
  • p.Ala244Ser Multiple submitters renal tubular dysgenesis of genetic origin

Likely benign 29

Uncertain significance 111