PVALB — 16 ClinVar variants
All ClinVar germline PVALB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
3 Benign · 13 Uncertain significance
Full PVALB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 12
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 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PVALB p.Ala18Asp Uncertain significance Single submitter
- PVALB p.Ala80Val Uncertain significance Single submitter
- PVALB p.Asp23Asn Uncertain significance Single submitter
- PVALB p.Asp77Asn Uncertain significance Single submitter
- PVALB p.Glu60Lys Uncertain significance Single submitter
- PVALB p.Gly70Ala Uncertain significance Single submitter
- PVALB p.Gly96Ser Uncertain significance Single submitter
- PVALB p.Gly99Glu Uncertain significance Single submitter
- PVALB p.His27Asn Uncertain significance Single submitter
- PVALB p.Leu51Arg Uncertain significance Single submitter
- PVALB p.Lys28Gln Uncertain significance Single submitter
- PVALB p.Lys38Arg Uncertain significance Single submitter
All PVALB variants
Benign 3
- p.Ala41Val Multiple submitters
- p.Gly65Arg Multiple submitters
- c.62-10C>A Single submitter
Uncertain significance 13
- p.Ala18Asp Single submitter ⚠
- p.Ala80Val Single submitter ⚠
- p.Asp23Asn Single submitter ⚠
- p.Asp77Asn Single submitter ⚠
- p.Glu60Lys Single submitter ⚠
- p.Gly70Ala Single submitter ⚠
- p.Gly96Ser Single submitter ⚠
- p.Gly99Glu Single submitter ⚠
- p.His27Asn Single submitter ⚠
- p.Leu51Arg Single submitter ⚠
- p.Lys28Gln Single submitter ⚠
- p.Lys38Arg Single submitter ⚠
- p.Val47Leu Single submitter