PPARA — 51 ClinVar variants
All ClinVar germline PPARA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 38 flagged for review →
1 Conflicting · 4 Benign · 8 Likely benign · 38 Uncertain significance
Full PPARA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 38
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 31
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PPARA p.Ala201Thr Uncertain significance Single submitter
- PPARA p.Ala225Thr Uncertain significance Single submitter
- PPARA p.Ala291Thr Uncertain significance Single submitter
- PPARA p.Ala381Pro Uncertain significance Single submitter
- PPARA p.Arg141His Uncertain significance Single submitter
- PPARA p.Arg175Gln Uncertain significance Single submitter
- PPARA p.Asn219Ser Uncertain significance Single submitter
- PPARA p.Asn261His Uncertain significance Single submitter
- PPARA p.Cys191Ser Uncertain significance Single submitter
- PPARA p.Glu15Gln Uncertain significance Single submitter
- PPARA p.Glu245Asp Uncertain significance Single submitter
- PPARA p.Gly17Ser Uncertain significance Single submitter
- PPARA p.Gly403Ser Uncertain significance Single submitter
- PPARA p.Gly58Glu Uncertain significance Single submitter
- PPARA p.Gly62Asp Uncertain significance Single submitter
- PPARA p.Gly62Val Uncertain significance Single submitter
- PPARA p.Ile210Leu Uncertain significance Single submitter
- PPARA p.Leu19Val Uncertain significance Single submitter
- PPARA p.Leu426His Uncertain significance Single submitter
- PPARA p.Lys133Glu Uncertain significance Single submitter
- PPARA p.Lys148Arg Uncertain significance Single submitter
- PPARA p.Lys399Thr Uncertain significance Single submitter
- PPARA p.Phe378Cys Uncertain significance Single submitter
- PPARA p.Pro13Thr Uncertain significance Single submitter
- PPARA p.Pro7Ala Uncertain significance Single submitter
- PPARA p.Ser21Gly Uncertain significance Single submitter
- PPARA p.Ser234Asn Uncertain significance Single submitter
- PPARA p.Ser66Leu Uncertain significance Single submitter
- PPARA p.Thr450Met Uncertain significance Single submitter
- PPARA p.Thr69Arg Uncertain significance Single submitter
- PPARA p.Thr69Met Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- PPARA p.Asn326Ser Uncertain significance Single submitter
- PPARA p.His242Gln Uncertain significance Single submitter
- PPARA p.Leu422Val Uncertain significance Single submitter
- PPARA p.Lys147Arg Uncertain significance Single submitter
- PPARA p.Val135Met Uncertain significance Single submitter
-
PPARA p.Leu162Val
Benign
No assertion criteria
Hyperapobetalipoproteinemia, susceptibility to
All PPARA variants
Conflicting classifications of pathogenicity 1
- p.Glu212Lys Single submitter ⚠
Benign 4
- p.Asn235= Multiple submitters
- p.Leu184= Multiple submitters
- p.Val227Ala Multiple submitters
- p.Leu162Val No assertion criteria Hyperapobetalipoproteinemia, susceptibility to ⚠
Likely benign 8
- c.1160-3T>C Single submitter
- p.Ala455= Single submitter
- p.Asp328= Single submitter
- p.Cys105= Single submitter
- p.Leu331= Single submitter
- p.Thr82Ile Single submitter
- p.Ala268Val No assertion criteria PPARA-related disorder
- p.Pro13= No assertion criteria PPARA-related disorder
Uncertain significance 38
- p.Ala186Val Single submitter
- p.Ala201Thr Single submitter ⚠
- p.Ala225Thr Single submitter ⚠
- p.Ala291Thr Single submitter ⚠
- p.Ala381Pro Single submitter ⚠
- p.Arg141His Single submitter ⚠
- p.Arg175Gln Single submitter ⚠
- p.Asn219Ser Single submitter ⚠
- p.Asn261His Single submitter ⚠
- p.Asn326Ser Single submitter ⚠
- p.Asp243Asn Single submitter
- p.Cys191Ser Single submitter ⚠
- p.Glu15Gln Single submitter ⚠
- p.Glu245Asp Single submitter ⚠
- p.Gly17Ser Single submitter ⚠
- p.Gly403Ser Single submitter ⚠
- p.Gly58Glu Single submitter ⚠
- p.Gly62Asp Single submitter ⚠
- p.Gly62Val Single submitter ⚠
- p.His242Gln Single submitter ⚠
- p.Ile210Leu Single submitter ⚠
- p.Leu19Val Single submitter ⚠
- p.Leu422Val Single submitter ⚠
- p.Leu426His Single submitter ⚠
- p.Lys133Glu Single submitter ⚠
- p.Lys147Arg Single submitter ⚠
- p.Lys148Arg Single submitter ⚠
- p.Lys399Thr Single submitter ⚠
- p.Phe378Cys Single submitter ⚠
- p.Pro13Thr Single submitter ⚠
- p.Pro7Ala Single submitter ⚠
- p.Ser21Gly Single submitter ⚠
- p.Ser234Asn Single submitter ⚠
- p.Ser66Leu Single submitter ⚠
- p.Thr450Met Single submitter ⚠
- p.Thr69Arg Single submitter ⚠
- p.Thr69Met Single submitter ⚠
- p.Val135Met Single submitter ⚠