PHB1 — 17 ClinVar variants
All ClinVar germline PHB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 9 flagged for review →
5 Benign · 1 Likely benign · 11 Uncertain significance
Full PHB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 9
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 6
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PHB1 p.Ala244Val Uncertain significance Single submitter
- PHB1 p.Arg93Cys Uncertain significance Single submitter
- PHB1 p.Asp68Tyr Uncertain significance Single submitter
- PHB1 p.Gly51Glu Uncertain significance Single submitter
- PHB1 p.Pro104Ser Uncertain significance Single submitter
- PHB1 p.Thr160Asn Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All PHB1 variants
Benign 5
- c.511-12C>G Multiple submitters
- p.Leu251= Multiple submitters
- p.Arg43Leu Single submitter
- p.Val22Met Single submitter ovarian cancer
- c.393+9A>G No assertion criteria PHB1-related disorder
Likely benign 1
- p.Asp152= No assertion criteria PHB1-related disorder
Uncertain significance 11
- p.Ala244Val Single submitter ⚠
- p.Arg43Gly Single submitter
- p.Arg72Gln Single submitter ⚠
- p.Arg93Cys Single submitter ⚠
- p.Asp68Tyr Single submitter ⚠
- p.Gln264Arg Single submitter
- p.Gly51Glu Single submitter ⚠
- p.Ile79Met Single submitter ⚠
- p.Pro104Ser Single submitter ⚠
- p.Thr160Asn Single submitter ⚠
- p.Thr80Ser Single submitter ⚠