CSTPP1 — 7 ClinVar variants
All ClinVar germline CSTPP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 5 flagged for review →
1 Likely benign · 6 Uncertain significance
Full CSTPP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 5
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 3
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 CSTPP1 variants
Likely benign 1
- p.Asp327= Single submitter
Uncertain significance 6
- p.Arg18Gln Single submitter ⚠
- p.Asn92Lys Single submitter ⚠
- p.Asp260His Single submitter ⚠
- p.Glu328Lys Single submitter ⚠
- p.Pro218Ser Single submitter ⚠
- p.Ser313Leu Single submitter