PLAAT3 — 45 ClinVar variants
All ClinVar germline PLAAT3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 36 flagged for review →
3 Pathogenic · 1 Likely pathogenic · 3 Likely benign · 38 Uncertain significance
Full PLAAT3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 36
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 lean, ClinVar uncertain 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PLAAT3 p.Ser85Leu Uncertain significance Multiple submitters
- PLAAT3 p.Ala125Thr Uncertain significance Single submitter
- PLAAT3 p.Ala136Thr Uncertain significance Single submitter
- PLAAT3 p.Ala137Val Uncertain significance Single submitter
- PLAAT3 p.Ala25Asp Uncertain significance Single submitter
- PLAAT3 p.Ala43Thr Uncertain significance Single submitter
- PLAAT3 p.Ala45Thr Uncertain significance Single submitter
- PLAAT3 p.Ala53Thr Uncertain significance Single submitter
- PLAAT3 p.Ala69Val Uncertain significance Single submitter
- PLAAT3 p.Arg121Cys Uncertain significance Single submitter
- PLAAT3 p.Arg121His Uncertain significance Single submitter
- PLAAT3 p.Arg126His Uncertain significance Single submitter
- PLAAT3 p.Arg159Gln Uncertain significance Single submitter
- PLAAT3 p.Arg18Cys Uncertain significance Single submitter
- PLAAT3 p.Arg18His Uncertain significance Single submitter
- PLAAT3 p.Arg2Gly Uncertain significance Single submitter
- PLAAT3 p.Arg95Gln Uncertain significance Single submitter
- PLAAT3 p.Arg95Gly Uncertain significance Single submitter
- PLAAT3 p.Asp132Glu Uncertain significance Single submitter
- PLAAT3 p.Asp30Asn Uncertain significance Single submitter
- PLAAT3 p.Gly70Val Uncertain significance Single submitter
- PLAAT3 p.His80Tyr Uncertain significance Single submitter
- PLAAT3 p.Ile150Met Uncertain significance Single submitter
- PLAAT3 p.Lys107Glu Uncertain significance Single submitter
- PLAAT3 p.Met142Thr Uncertain significance Single submitter
- PLAAT3 p.Ser110Gly Uncertain significance Single submitter
- PLAAT3 p.Ser71Cys Uncertain significance Single submitter
- PLAAT3 p.Tyr21Cys Uncertain significance Single submitter
- PLAAT3 p.Val42Ala Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- PLAAT3 p.Ala137Pro Uncertain significance Single submitter
- PLAAT3 p.Ala45Pro Uncertain significance Single submitter
- PLAAT3 p.Ala96Val Uncertain significance Single submitter
- PLAAT3 p.His80Arg Uncertain significance Single submitter
- PLAAT3 p.Met51Ile Uncertain significance Single submitter
- PLAAT3 p.Pro10Thr Uncertain significance Single submitter
- PLAAT3 p.Pro88Leu Uncertain significance Single submitter
All PLAAT3 variants
Pathogenic 3
- c.16-4823_118+167del No assertion criteria lipodystrophy, familial partial, type 9
- p.Ala96fs No assertion criteria lipodystrophy, familial partial, type 9
- p.Cys113Ter No assertion criteria lipodystrophy, familial partial, type 9
Likely pathogenic 1
- c.387+2T>C Single submitter lipodystrophy, familial partial, type 9
Uncertain significance 38
- p.Ser85Leu Multiple submitters ⚠
- c.16-3C>T Single submitter
- p.Ala125Thr Single submitter ⚠
- p.Ala136Thr Single submitter ⚠
- p.Ala137Pro Single submitter ⚠
- p.Ala137Val Single submitter ⚠
- p.Ala25Asp Single submitter ⚠
- p.Ala43Thr Single submitter ⚠
- p.Ala45Pro Single submitter ⚠
- p.Ala45Thr Single submitter ⚠
- p.Ala53Thr Single submitter ⚠
- p.Ala69Val Single submitter ⚠
- p.Ala96Val Single submitter ⚠
- p.Arg121Cys Single submitter ⚠
- p.Arg121His Single submitter ⚠
- p.Arg126His Single submitter ⚠
- p.Arg159Gln Single submitter ⚠
- p.Arg18Cys Single submitter ⚠
- p.Arg18His Single submitter ⚠
- p.Arg2Gly Single submitter ⚠
- p.Arg95Gln Single submitter ⚠
- p.Arg95Gly Single submitter ⚠
- p.Asp132Glu Single submitter ⚠
- p.Asp30Asn Single submitter ⚠
- p.Gly70Val Single submitter ⚠
- p.His80Arg Single submitter ⚠
- p.His80Tyr Single submitter ⚠
- p.Ile150Met Single submitter ⚠
- p.Lys107Glu Single submitter ⚠
- p.Met142Thr Single submitter ⚠
- p.Met51Ile Single submitter ⚠
- p.Pro10Thr Single submitter ⚠
- p.Pro86Leu Single submitter
- p.Pro88Leu Single submitter ⚠
- p.Ser110Gly Single submitter ⚠
- p.Ser71Cys Single submitter ⚠
- p.Tyr21Cys Single submitter ⚠
- p.Val42Ala Single submitter ⚠