PIP5K1A — 5 ClinVar variants
All ClinVar germline PIP5K1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 4 flagged for review →
1 Likely pathogenic · 4 Uncertain significance
Full PIP5K1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 4
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 2
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 2
The independent predictors disagree with each other — read with care.
All PIP5K1A variants
Likely pathogenic 1
- p.Arg372Ter Single submitter intellectual developmental disorder 60 with seizures
Uncertain significance 4
- p.Ala20Val Single submitter ⚠
- p.Ala371Ser Single submitter ⚠
- p.Arg433Cys Single submitter ⚠
- p.Leu304Phe Single submitter ⚠