PGRMC2 — 24 ClinVar variants
All ClinVar germline PGRMC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 21 flagged for review →
24 Uncertain significance
Full PGRMC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 21
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PGRMC2 p.Gly81Glu Uncertain significance Multiple submitters
- PGRMC2 p.Ala140Val Uncertain significance Single submitter
- PGRMC2 p.Ala62Val Uncertain significance Single submitter
- PGRMC2 p.Arg77Trp Uncertain significance Single submitter
- PGRMC2 p.Arg78Trp Uncertain significance Single submitter
- PGRMC2 p.Gly14Arg Uncertain significance Single submitter
- PGRMC2 p.Gly51Ser Uncertain significance Single submitter
- PGRMC2 p.Gly83Arg Uncertain significance Single submitter
- PGRMC2 p.Leu60Pro Uncertain significance Single submitter
- PGRMC2 p.Lys217Arg Uncertain significance Single submitter
- PGRMC2 p.Pro139Ala Uncertain significance Single submitter
- PGRMC2 p.Pro91Ser Uncertain significance Single submitter
- PGRMC2 p.Val58Met Uncertain significance Single submitter
- PGRMC2 p.Val73Met Uncertain significance Single submitter
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PGRMC2 p.Gly38Glu
Uncertain significance
No assertion criteria
Hirschsprung disease, susceptibility to, 1
Predictors split 6
The independent predictors disagree with each other — read with care.
- PGRMC2 p.Arg184Gln Uncertain significance Single submitter
- PGRMC2 p.Asn124Ser Uncertain significance Single submitter
- PGRMC2 p.Asp129Asn Uncertain significance Single submitter
- PGRMC2 p.Gly37Trp Uncertain significance Single submitter
- PGRMC2 p.Gly52Arg Uncertain significance Single submitter
- PGRMC2 p.Lys132Glu Uncertain significance Single submitter
All PGRMC2 variants
Uncertain significance 24
- p.Gly81Glu Multiple submitters ⚠
- c.22G>T Single submitter
- p.Ala140Val Single submitter ⚠
- p.Ala62Val Single submitter ⚠
- p.Arg184Gln Single submitter ⚠
- p.Arg77Trp Single submitter ⚠
- p.Arg78Trp Single submitter ⚠
- p.Asn124Ser Single submitter ⚠
- p.Asp129Asn Single submitter ⚠
- p.Gly14Arg Single submitter ⚠
- p.Gly37Trp Single submitter ⚠
- p.Gly50Trp Single submitter
- p.Gly51Ser Single submitter ⚠
- p.Gly52Arg Single submitter ⚠
- p.Gly83Arg Single submitter ⚠
- p.Leu60Pro Single submitter ⚠
- p.Lys132Glu Single submitter ⚠
- p.Lys217Arg Single submitter ⚠
- p.Pro139Ala Single submitter ⚠
- p.Pro91Ser Single submitter ⚠
- p.Tyr69Ser Single submitter
- p.Val58Met Single submitter ⚠
- p.Val73Met Single submitter ⚠
- p.Gly38Glu No assertion criteria Hirschsprung disease, susceptibility to, 1 ⚠