HPGDS — 22 ClinVar variants
All ClinVar germline HPGDS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 16 flagged for review →
5 Benign · 1 Likely benign · 16 Uncertain significance
Full HPGDS gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 16
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HPGDS p.Ala37Thr Uncertain significance Single submitter
- HPGDS p.Arg178Gln Uncertain significance Single submitter
- HPGDS p.Arg19Cys Uncertain significance Single submitter
- HPGDS p.Asp38Val Uncertain significance Single submitter
- HPGDS p.Gln28Glu Uncertain significance Single submitter
- HPGDS p.Ile67Thr Uncertain significance Single submitter
- HPGDS p.Met99Thr Uncertain significance Single submitter
- HPGDS p.Ser145Phe Uncertain significance Single submitter
- HPGDS p.Thr121Lys Uncertain significance Single submitter
- HPGDS p.Thr81Pro Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- HPGDS p.Met128Thr Benign Multiple submitters
- HPGDS p.His62Arg Uncertain significance Single submitter
- HPGDS p.Leu119Pro Uncertain significance Single submitter
- HPGDS p.Met99Ile Uncertain significance Single submitter
- HPGDS p.Phe98Ile Uncertain significance Single submitter
- HPGDS p.Trp190Cys Uncertain significance Single submitter
All HPGDS variants
Benign 5
- p.Arg14= Multiple submitters
- p.Ile91Val Multiple submitters
- p.Leu199= Multiple submitters
- p.Met128Thr Multiple submitters ⚠
- p.Val187Ile Multiple submitters
Likely benign 1
- p.Glu113Asp Single submitter
Uncertain significance 16
- p.Ala37Thr Single submitter ⚠
- p.Arg178Gln Single submitter ⚠
- p.Arg19Cys Single submitter ⚠
- p.Asp38Val Single submitter ⚠
- p.Gln28Glu Single submitter ⚠
- p.Gly49Arg Single submitter
- p.His62Arg Single submitter ⚠
- p.Ile67Thr Single submitter ⚠
- p.Leu119Pro Single submitter ⚠
- p.Met99Ile Single submitter ⚠
- p.Met99Thr Single submitter ⚠
- p.Phe98Ile Single submitter ⚠
- p.Ser145Phe Single submitter ⚠
- p.Thr121Lys Single submitter ⚠
- p.Thr81Pro Single submitter ⚠
- p.Trp190Cys Single submitter ⚠