PGA5 — 37 ClinVar variants
All ClinVar germline PGA5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →
2 Likely benign · 35 Uncertain significance
Full PGA5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 33
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 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PGA5 p.Ala385Thr Uncertain significance Single submitter
- PGA5 p.Asp306Asn Uncertain significance Single submitter
- PGA5 p.Asp376His Uncertain significance Single submitter
- PGA5 p.Cys272Phe Uncertain significance Single submitter
- PGA5 p.Gln339Lys Uncertain significance Single submitter
- PGA5 p.Glu249Lys Uncertain significance Single submitter
- PGA5 p.Gly224Val Uncertain significance Single submitter
- PGA5 p.Gly239Glu Uncertain significance Single submitter
- PGA5 p.Gly279Ser Uncertain significance Single submitter
- PGA5 p.Gly285Ser Uncertain significance Single submitter
- PGA5 p.Ile228Leu Uncertain significance Single submitter
- PGA5 p.Ile232Thr Uncertain significance Single submitter
- PGA5 p.Ile293Met Uncertain significance Single submitter
- PGA5 p.Ile320Leu Uncertain significance Single submitter
- PGA5 p.Ile320Val Uncertain significance Single submitter
- PGA5 p.Leu338Met Uncertain significance Single submitter
- PGA5 p.Phe229Val Uncertain significance Single submitter
- PGA5 p.Pro245Ser Uncertain significance Single submitter
- PGA5 p.Pro286Ala Uncertain significance Single submitter
- PGA5 p.Ser281Cys Uncertain significance Single submitter
- PGA5 p.Ser295Asn Uncertain significance Single submitter
- PGA5 p.Ser357Pro Uncertain significance Single submitter
- PGA5 p.Thr238Ser Uncertain significance Single submitter
- PGA5 p.Trp243Cys Uncertain significance Single submitter
- PGA5 p.Trp252Arg Uncertain significance Single submitter
- PGA5 p.Trp361Cys Uncertain significance Single submitter
- PGA5 p.Val248Ile Uncertain significance Single submitter
- PGA5 p.Val256Met Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All PGA5 variants
Likely benign 2
- p.Asp220Asn Single submitter
- p.Lys222Gln Single submitter
Uncertain significance 35
- p.Ala267Thr Single submitter
- p.Ala385Thr Single submitter ⚠
- p.Asn379Thr Single submitter ⚠
- p.Asn380His Single submitter ⚠
- p.Asp306Asn Single submitter ⚠
- p.Asp376Asn Single submitter ⚠
- p.Asp376His Single submitter ⚠
- p.Cys272Phe Single submitter ⚠
- p.Gln339Lys Single submitter ⚠
- p.Glu249Lys Single submitter ⚠
- p.Gly224Val Single submitter ⚠
- p.Gly239Glu Single submitter ⚠
- p.Gly263Arg Single submitter
- p.Gly279Ser Single submitter ⚠
- p.Gly285Ser Single submitter ⚠
- p.Gly383Ala Single submitter ⚠
- p.Ile228Leu Single submitter ⚠
- p.Ile232Thr Single submitter ⚠
- p.Ile293Met Single submitter ⚠
- p.Ile320Leu Single submitter ⚠
- p.Ile320Val Single submitter ⚠
- p.Leu338Met Single submitter ⚠
- p.Phe229Val Single submitter ⚠
- p.Pro245Ser Single submitter ⚠
- p.Pro286Ala Single submitter ⚠
- p.Ser281Cys Single submitter ⚠
- p.Ser295Asn Single submitter ⚠
- p.Ser357Pro Single submitter ⚠
- p.Thr238Ser Single submitter ⚠
- p.Thr260Ala Single submitter ⚠
- p.Trp243Cys Single submitter ⚠
- p.Trp252Arg Single submitter ⚠
- p.Trp361Cys Single submitter ⚠
- p.Val248Ile Single submitter ⚠
- p.Val256Met Single submitter ⚠