PAICS — 32 ClinVar variants
All ClinVar germline PAICS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
3 Likely pathogenic · 1 Likely benign · 28 Uncertain significance
Full PAICS gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PAICS p.Ala4Val Uncertain significance Single submitter
- PAICS p.Asp210Glu Uncertain significance Single submitter
- PAICS p.Gln159Arg Uncertain significance Single submitter
- PAICS p.Glu250Gln Uncertain significance Single submitter
- PAICS p.Glu263Gly Uncertain significance Single submitter
- PAICS p.Ile203Thr Uncertain significance Single submitter
- PAICS p.Ile209Thr Uncertain significance Single submitter
- PAICS p.Leu310Val Uncertain significance Single submitter
- PAICS p.Leu366Phe Uncertain significance Single submitter
- PAICS p.Lys116Glu Uncertain significance Single submitter
- PAICS p.Lys149Asn Uncertain significance Single submitter
- PAICS p.Lys30Arg Uncertain significance Single submitter
- PAICS p.Phe121Leu Uncertain significance Single submitter
- PAICS p.Phe325Ser Uncertain significance Single submitter
- PAICS p.Pro352Leu Uncertain significance Single submitter
- PAICS p.Pro355Ser Uncertain significance Single submitter
- PAICS p.Thr105Ala Uncertain significance Single submitter
- PAICS p.Thr40Ile Uncertain significance Single submitter
- PAICS p.Val270Met Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
-
PAICS p.Ser35Phe
Uncertain significance
Multiple submitters
Phosphoribosylaminoimidazole carboxylase deficiency
- PAICS p.Ala153Val Uncertain significance Single submitter
- PAICS p.Ala287Pro Uncertain significance Single submitter
- PAICS p.Glu174Gly Uncertain significance Single submitter
- PAICS p.Leu32Phe Uncertain significance Single submitter
- PAICS p.Met190Thr Uncertain significance Single submitter
- PAICS p.Phe291Val Uncertain significance Single submitter
- PAICS p.Pro322Leu Uncertain significance Single submitter
-
PAICS p.Ser179Pro
Likely pathogenic
No assertion criteria
Phosphoribosylaminoimidazole carboxylase deficiency
All PAICS variants
Likely pathogenic 3
- p.Lys53Arg Multiple submitters Fetal anomalies with a likely genetic cause
- p.Cys281_Glu282delinsTer Single submitter Phosphoribosylaminoimidazole carboxylase deficiency
- p.Ser179Pro No assertion criteria Phosphoribosylaminoimidazole carboxylase deficiency ⚠
Likely benign 1
- p.Leu216= Single submitter
Uncertain significance 28
- p.Ser35Phe Multiple submitters Phosphoribosylaminoimidazole carboxylase deficiency ⚠
- p.Ala153Val Single submitter ⚠
- p.Ala287Pro Single submitter ⚠
- p.Ala4Val Single submitter ⚠
- p.Asp210Glu Single submitter ⚠
- p.Gln159Arg Single submitter ⚠
- p.Glu174Gly Single submitter ⚠
- p.Glu250Gln Single submitter ⚠
- p.Glu263Gly Single submitter ⚠
- p.Ile203Thr Single submitter ⚠
- p.Ile209Thr Single submitter ⚠
- p.Leu234Val Single submitter
- p.Leu310Val Single submitter ⚠
- p.Leu32Phe Single submitter ⚠
- p.Leu366Phe Single submitter ⚠
- p.Lys116Glu Single submitter ⚠
- p.Lys149Asn Single submitter ⚠
- p.Lys30Arg Single submitter ⚠
- p.Met190Thr Single submitter ⚠
- p.Phe121Leu Single submitter ⚠
- p.Phe291Val Single submitter ⚠
- p.Phe325Ser Single submitter ⚠
- p.Pro322Leu Single submitter ⚠
- p.Pro352Leu Single submitter ⚠
- p.Pro355Ser Single submitter ⚠
- p.Thr105Ala Single submitter ⚠
- p.Thr40Ile Single submitter ⚠
- p.Val270Met Single submitter ⚠