Sugi Variant

Sugi Variant/UMPS

UMPS — 290 ClinVar variants

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

3 Pathogenic · 2 Likely pathogenic · 13 Conflicting · 49 Benign · 3 Benign/Likely benign · 46 Likely benign · 174 Uncertain significance

Full UMPS 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 58

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 UMPS variants

Pathogenic 3

Likely pathogenic 2

Conflicting classifications of pathogenicity 13

Benign 49

Benign/Likely benign 3

  • p.Ala6= Multiple submitters Oroticaciduria
  • p.Ala7= Multiple submitters Oroticaciduria
  • p.Asp458= Multiple submitters Oroticaciduria

Likely benign 46

  • c.1159-19C>T Multiple submitters Hereditary orotic aciduria, type 1
  • p.His166= Multiple submitters
  • p.Leu120= Multiple submitters Inborn genetic diseases
  • p.Ser444= Multiple submitters Hereditary orotic aciduria, type 1
  • p.Tyr432= Multiple submitters
  • c.157-20A>T Single submitter Hereditary orotic aciduria, type 1
  • c.157-4A>G Single submitter Hereditary orotic aciduria, type 1
  • c.310+8A>G Single submitter Hereditary orotic aciduria, type 1
  • c.983-13C>A Single submitter Hereditary orotic aciduria, type 1
  • c.*1155T>C Single submitter Oroticaciduria
  • c.*1349G>A Single submitter Oroticaciduria
  • c.*2884A>G Single submitter Oroticaciduria
  • c.*2901G>C Single submitter Oroticaciduria
  • c.*3065C>T Single submitter Oroticaciduria
  • c.*3130C>T Single submitter Oroticaciduria
  • c.*3264G>A Single submitter Oroticaciduria
  • c.*348C>T Single submitter Oroticaciduria
  • c.*3494G>A Single submitter Oroticaciduria
  • c.*3732C>T Single submitter Oroticaciduria
  • c.*4016T>C Single submitter Oroticaciduria
  • c.*4078T>C Single submitter Oroticaciduria
  • c.*4876C>G Single submitter Oroticaciduria
  • c.*868del Single submitter
  • p.Ala209= Single submitter Hereditary orotic aciduria, type 1
  • p.Asn212= Single submitter
  • p.Asp190= Single submitter
  • p.Gly364= Single submitter
  • p.Ile286= Single submitter Hereditary orotic aciduria, type 1
  • p.Ile36Val Single submitter Inborn genetic diseases
  • p.Leu15= Single submitter Hereditary orotic aciduria, type 1
  • p.Leu266= Single submitter Hereditary orotic aciduria, type 1
  • p.Leu339= Single submitter Hereditary orotic aciduria, type 1
  • p.Leu460= Single submitter Hereditary orotic aciduria, type 1
  • p.Lys242= Single submitter
  • p.Phe227= Single submitter Hereditary orotic aciduria, type 1
  • p.Pro10= Single submitter Hereditary orotic aciduria, type 1
  • p.Ser241= Single submitter Hereditary orotic aciduria, type 1
  • p.Ser476= Single submitter
  • p.Thr70= Single submitter
  • p.Tyr382= Single submitter
  • p.Val151= Single submitter Hereditary orotic aciduria, type 1
  • p.Val74= Single submitter Hereditary orotic aciduria, type 1
  • p.Arg96Gly No assertion criteria
  • p.Asn433= No assertion criteria UMPS-related disorder
  • p.Phe58= No assertion criteria UMPS-related disorder
  • p.Thr175= No assertion criteria UMPS-related disorder

Uncertain significance 174