Sugi Variant

Sugi Variant/APRT

APRT — 193 ClinVar variants

All ClinVar germline APRT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 67 flagged for review →

51 Pathogenic · 3 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 9 Conflicting · 10 Benign · 5 Benign/Likely benign · 25 Likely benign · 69 Uncertain significance

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

⚑ Evidence disagreements 67

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 agree, ClinVar conflicts 2

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

Predictors lean, ClinVar uncertain 26

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

Predictors split 39

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

All APRT variants

Pathogenic 51

  • p.Arg87Ter Multiple submitters adenine phosphoribosyltransferase deficiency
  • p.Asp65Val Multiple submitters adenine phosphoribosyltransferase deficiency
  • p.Leu97fs Multiple submitters adenine phosphoribosyltransferase deficiency
  • p.Met1Val Multiple submitters adenine phosphoribosyltransferase deficiency
  • p.Trp98Ter Multiple submitters adenine phosphoribosyltransferase deficiency
  • c.80+2T>C Single submitter
  • p.Ala37fs Single submitter
  • p.Ala76Val Single submitter adenine phosphoribosyltransferase deficiency
  • p.Arg67Ter Single submitter adenine phosphoribosyltransferase deficiency
  • p.Glu104Ter Single submitter
  • p.Glu152fs Single submitter
  • p.Glu158del Single submitter adenine phosphoribosyltransferase deficiency
  • p.Gly94fs Single submitter
  • p.Leu130fs Single submitter
  • p.Leu85fs Single submitter
  • p.Lys88Asn Single submitter adenine phosphoribosyltransferase deficiency
  • p.Lys91fs Single submitter
  • p.Met136Thr Single submitter adenine phosphoribosyltransferase deficiency
  • p.Met1Ile Single submitter adenine phosphoribosyltransferase deficiency
  • p.Met1Thr Single submitter adenine phosphoribosyltransferase deficiency
  • p.Ser175del Single submitter adenine phosphoribosyltransferase deficiency
  • p.Val9fs Single submitter adenine phosphoribosyltransferase deficiency
  • c.184_187+22del No assertion criteria adenine phosphoribosyltransferase deficiency
  • c.188-145_296del No assertion criteria adenine phosphoribosyltransferase deficiency
  • c.188-3C>G No assertion criteria adenine phosphoribosyltransferase deficiency
  • c.321+2dup No assertion criteria adenine phosphoribosyltransferase deficiency
  • c.400+1G>T No assertion criteria adenine phosphoribosyltransferase deficiency
  • c.400+3A>T No assertion criteria adenine phosphoribosyltransferase deficiency
  • c.-1_*1del No assertion criteria adenine phosphoribosyltransferase deficiency
  • p.Arg40Pro No assertion criteria adenine phosphoribosyltransferase deficiency
  • p.Asp127Gly No assertion criteria adenine phosphoribosyltransferase deficiency
  • p.Asp28His No assertion criteria adenine phosphoribosyltransferase deficiency
  • p.Cys153Arg No assertion criteria adenine phosphoribosyltransferase deficiency
  • p.Gln178Ter No assertion criteria adenine phosphoribosyltransferase deficiency
  • p.Glu104Gly No assertion criteria adenine phosphoribosyltransferase deficiency
  • p.Gly120Val No assertion criteria adenine phosphoribosyltransferase deficiency ⚠
  • p.Gly133Asp No assertion criteria adenine phosphoribosyltransferase deficiency
  • p.Ile61fs No assertion criteria adenine phosphoribosyltransferase deficiency
  • p.Leu110Pro No assertion criteria adenine phosphoribosyltransferase deficiency
  • p.Leu143Pro No assertion criteria adenine phosphoribosyltransferase deficiency
  • p.Leu176fs No assertion criteria adenine phosphoribosyltransferase deficiency
  • p.Leu176Phe No assertion criteria adenine phosphoribosyltransferase deficiency ⚠
  • p.Leu33Pro No assertion criteria adenine phosphoribosyltransferase deficiency
  • p.Lys88fs No assertion criteria adenine phosphoribosyltransferase deficiency
  • p.Ser161Ter No assertion criteria adenine phosphoribosyltransferase deficiency
  • p.Ter181Cys No assertion criteria adenine phosphoribosyltransferase deficiency
  • p.Ter181Ser No assertion criteria adenine phosphoribosyltransferase deficiency
  • p.Val124Gly No assertion criteria adenine phosphoribosyltransferase deficiency
  • p.Val150Phe No assertion criteria adenine phosphoribosyltransferase deficiency
  • p.Val154fs No assertion criteria adenine phosphoribosyltransferase deficiency
  • p.Val171fs No assertion criteria adenine phosphoribosyltransferase deficiency

Pathogenic/Likely pathogenic 3

  • c.81-3C>G Multiple submitters adenine phosphoribosyltransferase deficiency
  • p.Phe174del Multiple submitters adenine phosphoribosyltransferase deficiency
  • p.Thr96fs Multiple submitters adenine phosphoribosyltransferase deficiency

Likely pathogenic 21

  • p.Arg67Gln Multiple submitters adenine phosphoribosyltransferase deficiency
  • p.Gly133Arg Multiple submitters adenine phosphoribosyltransferase deficiency
  • p.Gly63Asp Multiple submitters adenine phosphoribosyltransferase deficiency
  • c.187+2C>A Single submitter adenine phosphoribosyltransferase deficiency
  • c.188-145_296delinsTTCCCGTA Single submitter adenine phosphoribosyltransferase deficiency
  • c.322-1_322delinsAT Single submitter
  • c.401-20C>G Single submitter adenine phosphoribosyltransferase deficiency
  • c.401-21A>T Single submitter adenine phosphoribosyltransferase deficiency
  • c.401-40_401-25del Single submitter adenine phosphoribosyltransferase deficiency
  • c.81-2A>G Single submitter adenine phosphoribosyltransferase deficiency
  • p.Gln147Ter Single submitter adenine phosphoribosyltransferase deficiency
  • p.Glu152Ter Single submitter adenine phosphoribosyltransferase deficiency
  • p.Glu5fs Single submitter adenine phosphoribosyltransferase deficiency
  • p.Glu5Ter Single submitter adenine phosphoribosyltransferase deficiency
  • p.Leu162del Single submitter
  • p.Phe39fs Single submitter adenine phosphoribosyltransferase deficiency
  • p.Pro20Ser Single submitter adenine phosphoribosyltransferase deficiency
  • p.Ter181Arg Single submitter adenine phosphoribosyltransferase deficiency
  • p.Asp28Glu No assertion criteria adenine phosphoribosyltransferase deficiency
  • p.Leu130Pro No assertion criteria adenine phosphoribosyltransferase deficiency
  • p.Ser175Phe No assertion criteria adenine phosphoribosyltransferase deficiency

Conflicting classifications of pathogenicity 9

  • c.400+2dup Single submitter adenine phosphoribosyltransferase deficiency
  • p.Ala116Thr Single submitter adenine phosphoribosyltransferase deficiency ⚠
  • p.Arg122= Single submitter adenine phosphoribosyltransferase deficiency
  • p.Asn137= Single submitter adenine phosphoribosyltransferase deficiency
  • p.Gly72= Single submitter adenine phosphoribosyltransferase deficiency
  • p.His54Asp Single submitter adenine phosphoribosyltransferase deficiency ⚠
  • p.Ile112Phe Single submitter adenine phosphoribosyltransferase deficiency ⚠
  • p.Leu92= Single submitter adenine phosphoribosyltransferase deficiency
  • p.Gly164Asp No assertion criteria adenine phosphoribosyltransferase deficiency ⚠

Benign 10

Benign/Likely benign 5

  • c.*3A>G Multiple submitters
  • p.Arg89Gln Multiple submitters adenine phosphoribosyltransferase deficiency
  • p.His54= Multiple submitters adenine phosphoribosyltransferase deficiency
  • p.Leu33= Multiple submitters
  • p.Ser30= Multiple submitters

Likely benign 25

Uncertain significance 69