Sugi Variant

Sugi Variant/AGT

AGT — 189 ClinVar variants

All ClinVar germline AGT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 81 flagged for review →

4 Pathogenic · 2 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 13 Conflicting · 13 Benign · 2 Benign/Likely benign · 45 Likely benign · 103 Uncertain significance

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

⚑ Evidence disagreements 81

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 17

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

All AGT variants

Pathogenic 4

Pathogenic/Likely pathogenic 2

  • c.1060C>T Multiple submitters essential hypertension, genetic
  • c.829+1G>T Multiple submitters essential hypertension, genetic

Likely pathogenic 7

  • p.Arg366Pro Single submitter Unexplained young onset end-stage renal disease
  • p.Glu399Ter Single submitter renal tubular dysgenesis of genetic origin
  • p.Lys404fs Single submitter renal tubular dysgenesis of genetic origin
  • p.Lys54fs Single submitter Anhydramnios
  • p.Trp292Ter Single submitter renal tubular dysgenesis of genetic origin
  • p.Tyr272Ter Single submitter renal tubular dysgenesis of genetic origin
  • p.Arg26Gln No assertion criteria renal tubular dysgenesis ⚠

Conflicting classifications of pathogenicity 13

  • c.-24C>T Single submitter renal tubular dysgenesis of genetic origin ⚠
  • p.Ala394dup Single submitter renal tubular dysgenesis of genetic origin
  • p.Arg26Trp Single submitter essential hypertension, genetic ⚠
  • p.Arg449Cys Single submitter
  • p.Glu422Ter Single submitter Large fontanelles
  • p.Gly201= Single submitter renal tubular dysgenesis of genetic origin
  • p.Gly255Ser Single submitter renal tubular dysgenesis of genetic origin ⚠
  • p.Leu235Arg Single submitter
  • p.Pro62Leu Single submitter renal tubular dysgenesis of genetic origin ⚠
  • p.Ser7= Single submitter renal tubular dysgenesis of genetic origin
  • p.Thr198= Single submitter renal tubular dysgenesis of genetic origin
  • p.Thr250fs Single submitter renal tubular dysgenesis of genetic origin
  • p.Val124Ile Single submitter renal tubular dysgenesis of genetic origin ⚠

Benign 13

Benign/Likely benign 2

Likely benign 45

Uncertain significance 103

  • c.1195G>A Multiple submitters renal tubular dysgenesis ⚠
  • c.856G>T Multiple submitters renal tubular dysgenesis ⚠
  • c.862C>T Multiple submitters essential hypertension, genetic ⚠
  • c.-17G>C Multiple submitters renal tubular dysgenesis of genetic origin ⚠
  • p.Arg165Gln Multiple submitters renal tubular dysgenesis of genetic origin
  • p.Arg366Leu Multiple submitters renal tubular dysgenesis of genetic origin ⚠
  • p.Arg366Trp Multiple submitters renal tubular dysgenesis of genetic origin ⚠
  • p.Arg468His Multiple submitters renal tubular dysgenesis of genetic origin ⚠
  • p.Asp318His Multiple submitters essential hypertension, genetic ⚠
  • p.Gln403Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gln78His Multiple submitters renal tubular dysgenesis of genetic origin ⚠
  • p.Glu329Asp Multiple submitters renal tubular dysgenesis of genetic origin ⚠
  • p.Gly5Ser Multiple submitters renal tubular dysgenesis of genetic origin ⚠
  • p.Pro127Leu Multiple submitters essential hypertension, genetic ⚠
  • p.Ser257Phe Multiple submitters Inborn genetic diseases
  • p.Ser7Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Thr128Ala Multiple submitters renal tubular dysgenesis of genetic origin ⚠
  • p.Val118Met Multiple submitters renal tubular dysgenesis of genetic origin ⚠
  • p.Val273Ile Multiple submitters renal tubular dysgenesis of genetic origin ⚠
  • p.Val35Ile Multiple submitters renal tubular dysgenesis of genetic origin ⚠
  • p.Val469Met Multiple submitters renal tubular dysgenesis of genetic origin
  • c.1098-15_1098-14delinsTT Single submitter renal tubular dysgenesis of genetic origin
  • c.374T>C Single submitter essential hypertension, genetic ⚠
  • c.-12C>A Single submitter Inborn genetic diseases ⚠
  • c.-17G>A Single submitter ⚠
  • c.-23G>A Single submitter ⚠
  • c.-7G>T Single submitter renal tubular dysgenesis of genetic origin ⚠
  • p.Ala168Thr Single submitter renal tubular dysgenesis of genetic origin ⚠
  • p.Ala22Gly Single submitter ⚠
  • p.Ala261Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala268Asp Single submitter Inborn genetic diseases
  • p.Ala331Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala454Val Single submitter renal tubular dysgenesis of genetic origin
  • p.Ala460Asp Single submitter Inborn genetic diseases
  • p.Ala4Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala95Thr Single submitter renal tubular dysgenesis of genetic origin ⚠
  • p.Arg107His Single submitter renal tubular dysgenesis of genetic origin ⚠
  • p.Arg165Trp Single submitter renal tubular dysgenesis of genetic origin
  • p.Arg449His Single submitter Inborn genetic diseases ⚠
  • p.Asn355Lys Single submitter renal tubular dysgenesis of genetic origin
  • p.Asn358Asp Single submitter renal tubular dysgenesis of genetic origin ⚠
  • p.Asn438Lys Single submitter renal tubular dysgenesis of genetic origin ⚠
  • p.Asn49Ser Single submitter renal tubular dysgenesis of genetic origin ⚠
  • p.Asp147Gly Single submitter renal tubular dysgenesis of genetic origin ⚠
  • p.Asp147His Single submitter renal tubular dysgenesis of genetic origin
  • p.Asp159Glu Single submitter renal tubular dysgenesis of genetic origin ⚠
  • p.Asp236Glu Single submitter renal tubular dysgenesis of genetic origin ⚠
  • p.Asp236Tyr Single submitter Inborn genetic diseases ⚠
  • p.Asp345Asn Single submitter renal tubular dysgenesis of genetic origin ⚠
  • p.Gln179Leu Single submitter renal tubular dysgenesis of genetic origin
  • p.Gln276Leu Single submitter renal tubular dysgenesis of genetic origin ⚠
  • p.Gln337His Single submitter renal tubular dysgenesis of genetic origin ⚠
  • p.Gln44Glu Single submitter renal tubular dysgenesis of genetic origin ⚠
  • p.Glu429fs Single submitter renal tubular dysgenesis of genetic origin
  • p.Gly117Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly217Asp Single submitter renal tubular dysgenesis of genetic origin
  • p.Gly51Arg Single submitter Inborn genetic diseases ⚠
  • p.His169Tyr Single submitter renal tubular dysgenesis of genetic origin
  • p.His209Tyr Single submitter Inborn genetic diseases ⚠
  • p.His37Arg Single submitter renal tubular dysgenesis ⚠
  • p.Ile108Arg Single submitter AGT-related disorder
  • p.Leu142Trp Single submitter renal tubular dysgenesis of genetic origin
  • p.Leu182Pro Single submitter renal tubular dysgenesis of genetic origin ⚠
  • p.Leu377Gln Single submitter renal tubular dysgenesis of genetic origin ⚠
  • p.Leu416Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu75Pro Single submitter renal tubular dysgenesis of genetic origin
  • p.Leu81Gln Single submitter renal tubular dysgenesis of genetic origin
  • p.Leu8Met Single submitter renal tubular dysgenesis of genetic origin
  • p.Lys404Glu Single submitter renal tubular dysgenesis of genetic origin ⚠
  • p.Lys439Glu Single submitter ⚠
  • p.Met246Ile Single submitter Inborn genetic diseases ⚠
  • p.Met279Arg Single submitter renal tubular dysgenesis of genetic origin
  • p.Met96Thr Single submitter Inborn genetic diseases ⚠
  • p.Phe282Tyr Single submitter renal tubular dysgenesis of genetic origin ⚠
  • p.Phe451Ile Single submitter ⚠
  • p.Pro206Leu Single submitter renal tubular dysgenesis of genetic origin
  • p.Pro213Gln Single submitter renal tubular dysgenesis of genetic origin ⚠
  • p.Pro213Leu Single submitter renal tubular dysgenesis of genetic origin ⚠
  • p.Pro223Leu Single submitter Inborn genetic diseases
  • p.Pro373Ala Single submitter renal tubular dysgenesis of genetic origin ⚠
  • p.Pro440fs Single submitter
  • p.Pro440Ser Single submitter renal tubular dysgenesis of genetic origin ⚠
  • p.Pro472Gln Single submitter renal tubular dysgenesis of genetic origin ⚠
  • p.Ser113Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser164Tyr Single submitter renal tubular dysgenesis of genetic origin ⚠
  • p.Ser296Asn Single submitter renal tubular dysgenesis of genetic origin ⚠
  • p.Ser305Cys Single submitter ⚠
  • p.Ser321Trp Single submitter renal tubular dysgenesis of genetic origin ⚠
  • p.Ser330Arg Single submitter renal tubular dysgenesis of genetic origin ⚠
  • p.Ser330Asn Single submitter renal tubular dysgenesis of genetic origin ⚠
  • p.Ser380Thr Single submitter Inborn genetic diseases ⚠
  • p.Ser68Cys Single submitter ⚠
  • p.Thr233Ile Single submitter renal tubular dysgenesis of genetic origin ⚠
  • p.Thr328Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr367Ser Single submitter Inborn genetic diseases ⚠
  • p.Trp252Arg Single submitter renal tubular dysgenesis of genetic origin
  • p.Trp313Arg Single submitter renal tubular dysgenesis of genetic origin
  • p.Tyr138Cys Single submitter renal tubular dysgenesis of genetic origin ⚠
  • p.Val124= Single submitter
  • p.Val155Ile Single submitter Inborn genetic diseases
  • p.Val171Ile Single submitter
  • p.Val215Glu Single submitter Inborn genetic diseases ⚠
  • c.1243-1G>A No assertion criteria microcephaly