CST1 — 44 ClinVar variants
All ClinVar germline CST1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →
7 Likely benign · 37 Uncertain significance
Full CST1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 39
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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CST1 p.Arg131Ser Uncertain significance Single submitter
- CST1 p.Gln98Glu Uncertain significance Single submitter
- CST1 p.Glu124Ala Uncertain significance Single submitter
- CST1 p.Gly79Glu Uncertain significance Single submitter
- CST1 p.Gly79Val Uncertain significance Single submitter
- CST1 p.His107Gln Uncertain significance Single submitter
- CST1 p.Ile29Lys Uncertain significance Single submitter
- CST1 p.Leu39Ile Uncertain significance Single submitter
- CST1 p.Leu39Val Uncertain significance Single submitter
- CST1 p.Lys96Glu Uncertain significance Single submitter
- CST1 p.Pro67Ala Uncertain significance Single submitter
- CST1 p.Pro67Leu Uncertain significance Single submitter
- CST1 p.Ser22Arg Uncertain significance Single submitter
- CST1 p.Ser53Asn Uncertain significance Single submitter
- CST1 p.Trp21Leu Uncertain significance Single submitter
- CST1 p.Tyr4Ser Uncertain significance Single submitter
Predictors split 23
The independent predictors disagree with each other — read with care.
- CST1 p.Ala18Thr Uncertain significance Single submitter
- CST1 p.Ala51Thr Uncertain significance Single submitter
- CST1 p.Ala73Thr Uncertain significance Single submitter
- CST1 p.Arg46His Likely benign Single submitter
- CST1 p.Arg69Trp Uncertain significance Single submitter
- CST1 p.Arg72Thr Uncertain significance Single submitter
- CST1 p.Asn129Asp Likely benign Single submitter
- CST1 p.Asp61Val Uncertain significance Single submitter
- CST1 p.Glu124Lys Uncertain significance Single submitter
- CST1 p.Glu54Lys Uncertain significance Single submitter
- CST1 p.Gly33Asp Uncertain significance Single submitter
- CST1 p.Gly33Val Uncertain significance Single submitter
- CST1 p.Gly80Val Uncertain significance Single submitter
- CST1 p.Gly90Ser Uncertain significance Single submitter
- CST1 p.Ile34Leu Uncertain significance Single submitter
- CST1 p.Ile93Leu Uncertain significance Single submitter
- CST1 p.Phe106Ser Uncertain significance Single submitter
- CST1 p.Ser119Phe Uncertain significance Single submitter
- CST1 p.Ser6Asn Uncertain significance Single submitter
- CST1 p.Tyr55Cys Uncertain significance Single submitter
- CST1 p.Tyr64Cys Uncertain significance Single submitter
- CST1 p.Val87Ala Uncertain significance Single submitter
- CST1 p.Val87Ile Uncertain significance Single submitter
All CST1 variants
Likely benign 7
- p.Ala13= Single submitter
- p.Arg131Met Single submitter
- p.Arg46His Single submitter ⚠
- p.Asn129Asp Single submitter ⚠
- p.Gln3Arg Single submitter
- p.Glu121Gln Single submitter
- p.Leu9= Single submitter
Uncertain significance 37
- p.Ala18Thr Single submitter ⚠
- p.Ala51Thr Single submitter ⚠
- p.Ala73Thr Single submitter ⚠
- p.Arg131Ser Single submitter ⚠
- p.Arg69Trp Single submitter ⚠
- p.Arg72Thr Single submitter ⚠
- p.Asp61Val Single submitter ⚠
- p.Gln98Glu Single submitter ⚠
- p.Glu124Ala Single submitter ⚠
- p.Glu124Lys Single submitter ⚠
- p.Glu54Lys Single submitter ⚠
- p.Gly33Asp Single submitter ⚠
- p.Gly33Val Single submitter ⚠
- p.Gly79Glu Single submitter ⚠
- p.Gly79Val Single submitter ⚠
- p.Gly80Val Single submitter ⚠
- p.Gly90Ser Single submitter ⚠
- p.His107Gln Single submitter ⚠
- p.Ile29Lys Single submitter ⚠
- p.Ile34Leu Single submitter ⚠
- p.Ile93Leu Single submitter ⚠
- p.Leu39Ile Single submitter ⚠
- p.Leu39Val Single submitter ⚠
- p.Lys96Glu Single submitter ⚠
- p.Phe106Ser Single submitter ⚠
- p.Pro67Ala Single submitter ⚠
- p.Pro67Leu Single submitter ⚠
- p.Ser119Phe Single submitter ⚠
- p.Ser22Arg Single submitter ⚠
- p.Ser53Asn Single submitter ⚠
- p.Ser6Asn Single submitter ⚠
- p.Trp21Leu Single submitter ⚠
- p.Tyr4Ser Single submitter ⚠
- p.Tyr55Cys Single submitter ⚠
- p.Tyr64Cys Single submitter ⚠
- p.Val87Ala Single submitter ⚠
- p.Val87Ile Single submitter ⚠