PGLS — 66 ClinVar variants
All ClinVar germline PGLS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 57 flagged for review →
5 Benign · 4 Likely benign · 57 Uncertain significance
Full PGLS gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 57
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 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PGLS p.Ala210Val Uncertain significance Multiple submitters
- PGLS p.Ile171Thr Uncertain significance Multiple submitters
- PGLS p.Ala31Thr Uncertain significance Single submitter
- PGLS p.Ala35Val Uncertain significance Single submitter
- PGLS p.Ala3Thr Uncertain significance Single submitter
- PGLS p.Ala5Thr Uncertain significance Single submitter
- PGLS p.Arg185His Uncertain significance Single submitter
- PGLS p.Arg38Gly Uncertain significance Single submitter
- PGLS p.Arg40His Uncertain significance Single submitter
- PGLS p.Arg81Gly Uncertain significance Single submitter
- PGLS p.Asp125Glu Uncertain significance Single submitter
- PGLS p.Asp143Asn Uncertain significance Single submitter
- PGLS p.Asp152Asn Uncertain significance Single submitter
- PGLS p.Asp218Asn Uncertain significance Single submitter
- PGLS p.Asp241Asn Uncertain significance Single submitter
- PGLS p.Asp79Ala Uncertain significance Single submitter
- PGLS p.Gln24Arg Uncertain significance Single submitter
- PGLS p.Gly234Arg Uncertain significance Single submitter
- PGLS p.Gly234Glu Uncertain significance Single submitter
- PGLS p.His98Tyr Uncertain significance Single submitter
- PGLS p.Leu188Val Uncertain significance Single submitter
- PGLS p.Leu43Val Uncertain significance Single submitter
- PGLS p.Leu8Phe Uncertain significance Single submitter
- PGLS p.Lys170Glu Uncertain significance Single submitter
- PGLS p.Pro115Ala Uncertain significance Single submitter
- PGLS p.Ser108Asn Uncertain significance Single submitter
- PGLS p.Ser14Thr Uncertain significance Single submitter
- PGLS p.Ser69Arg Uncertain significance Single submitter
- PGLS p.Thr233Ile Uncertain significance Single submitter
- PGLS p.Thr91Ser Uncertain significance Single submitter
- PGLS p.Thr97Ala Uncertain significance Single submitter
- PGLS p.Val119Ala Uncertain significance Single submitter
- PGLS p.Val149Glu Uncertain significance Single submitter
- PGLS p.Val149Leu Uncertain significance Single submitter
- PGLS p.Val199Ile Uncertain significance Single submitter
- PGLS p.Val250Met Uncertain significance Single submitter
- PGLS p.Val51Ile Uncertain significance Single submitter
Predictors split 20
The independent predictors disagree with each other — read with care.
- PGLS p.Val11Met Uncertain significance Multiple submitters
- PGLS p.Ala122Val Uncertain significance Single submitter
- PGLS p.Arg168Gly Uncertain significance Single submitter
- PGLS p.Arg168Trp Uncertain significance Single submitter
- PGLS p.Arg214Cys Uncertain significance Single submitter
- PGLS p.Arg40Pro Uncertain significance Single submitter
- PGLS p.Asn114Lys Uncertain significance Single submitter
- PGLS p.Gly207Asp Uncertain significance Single submitter
- PGLS p.Gly7Asp Uncertain significance Single submitter
- PGLS p.Phe85Leu Uncertain significance Single submitter
- PGLS p.Pro104Leu Uncertain significance Single submitter
- PGLS p.Pro106Ala Uncertain significance Single submitter
- PGLS p.Pro251Arg Uncertain significance Single submitter
- PGLS p.Pro64Leu Uncertain significance Single submitter
- PGLS p.Pro84Leu Uncertain significance Single submitter
- PGLS p.Ser101Pro Uncertain significance Single submitter
- PGLS p.Ser14Arg Uncertain significance Single submitter
- PGLS p.Ser49Arg Uncertain significance Single submitter
- PGLS p.Thr198Pro Uncertain significance Single submitter
- PGLS p.Thr97Met Uncertain significance Single submitter
All PGLS variants
Benign 5
- p.Arg246Cys Single submitter
- p.Gln230Glu Single submitter
- p.Leu236= Single submitter
- p.Leu45= Single submitter
- p.Thr189= Single submitter
Likely benign 4
- p.Arg102Lys Single submitter
- p.Leu145= Single submitter
- p.Pro182= Single submitter
- p.Pro4= Single submitter
Uncertain significance 57
- p.Ala210Val Multiple submitters ⚠
- p.Ile171Thr Multiple submitters ⚠
- p.Val11Met Multiple submitters ⚠
- p.Ala122Val Single submitter ⚠
- p.Ala31Thr Single submitter ⚠
- p.Ala35Val Single submitter ⚠
- p.Ala3Thr Single submitter ⚠
- p.Ala5Thr Single submitter ⚠
- p.Arg168Gly Single submitter ⚠
- p.Arg168Trp Single submitter ⚠
- p.Arg185His Single submitter ⚠
- p.Arg214Cys Single submitter ⚠
- p.Arg38Gly Single submitter ⚠
- p.Arg40His Single submitter ⚠
- p.Arg40Pro Single submitter ⚠
- p.Arg81Gly Single submitter ⚠
- p.Asn114Lys Single submitter ⚠
- p.Asp125Glu Single submitter ⚠
- p.Asp143Asn Single submitter ⚠
- p.Asp152Asn Single submitter ⚠
- p.Asp218Asn Single submitter ⚠
- p.Asp241Asn Single submitter ⚠
- p.Asp79Ala Single submitter ⚠
- p.Gln24Arg Single submitter ⚠
- p.Gly207Asp Single submitter ⚠
- p.Gly234Arg Single submitter ⚠
- p.Gly234Glu Single submitter ⚠
- p.Gly7Asp Single submitter ⚠
- p.His98Tyr Single submitter ⚠
- p.Leu188Val Single submitter ⚠
- p.Leu43Val Single submitter ⚠
- p.Leu8Phe Single submitter ⚠
- p.Lys170Glu Single submitter ⚠
- p.Phe85Leu Single submitter ⚠
- p.Pro104Leu Single submitter ⚠
- p.Pro106Ala Single submitter ⚠
- p.Pro115Ala Single submitter ⚠
- p.Pro251Arg Single submitter ⚠
- p.Pro64Leu Single submitter ⚠
- p.Pro84Leu Single submitter ⚠
- p.Ser101Pro Single submitter ⚠
- p.Ser108Asn Single submitter ⚠
- p.Ser14Arg Single submitter ⚠
- p.Ser14Thr Single submitter ⚠
- p.Ser49Arg Single submitter ⚠
- p.Ser69Arg Single submitter ⚠
- p.Thr198Pro Single submitter ⚠
- p.Thr233Ile Single submitter ⚠
- p.Thr91Ser Single submitter ⚠
- p.Thr97Ala Single submitter ⚠
- p.Thr97Met Single submitter ⚠
- p.Val119Ala Single submitter ⚠
- p.Val149Glu Single submitter ⚠
- p.Val149Leu Single submitter ⚠
- p.Val199Ile Single submitter ⚠
- p.Val250Met Single submitter ⚠
- p.Val51Ile Single submitter ⚠