CLPS — 14 ClinVar variants
All ClinVar germline CLPS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 11 flagged for review →
2 Benign · 1 Likely benign · 11 Uncertain significance
Full CLPS gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 11
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 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CLPS p.Ala50Val Uncertain significance Single submitter
- CLPS p.Cys80Arg Uncertain significance Single submitter
- CLPS p.Glu65Lys Uncertain significance Single submitter
- CLPS p.Gly102Asp Uncertain significance Single submitter
- CLPS p.His47Gln Uncertain significance Single submitter
- CLPS p.Leu71Pro Uncertain significance Single submitter
- CLPS p.Lys77Glu Uncertain significance Single submitter
- CLPS p.Met35Val Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All CLPS variants
Benign 2
- c.84+412C>T Single submitter
- p.Ala50= Single submitter
Likely benign 1
- p.Ala107Thr Single submitter
Uncertain significance 11
- p.Ala50Val Single submitter ⚠
- p.Asn43Ile Single submitter ⚠
- p.Cys80Arg Single submitter ⚠
- p.Glu65Lys Single submitter ⚠
- p.Glu81Asp Single submitter ⚠
- p.Gly102Asp Single submitter ⚠
- p.His47Gln Single submitter ⚠
- p.Leu71Pro Single submitter ⚠
- p.Lys77Glu Single submitter ⚠
- p.Met35Val Single submitter ⚠
- p.Tyr16Cys Single submitter ⚠