CST7 — 18 ClinVar variants
All ClinVar germline CST7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 17 flagged for review →
1 Likely benign · 17 Uncertain significance
Full CST7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 17
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.
- CST7 p.Ala9Val Uncertain significance Single submitter
- CST7 p.Arg33His Uncertain significance Single submitter
- CST7 p.Arg96Ser Uncertain significance Single submitter
- CST7 p.Asn61His Uncertain significance Single submitter
- CST7 p.Cys63Arg Uncertain significance Single submitter
- CST7 p.Cys99Ser Uncertain significance Single submitter
- CST7 p.Phe70Val Uncertain significance Single submitter
- CST7 p.Pro36Leu Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- CST7 p.Glu138Gln Uncertain significance Single submitter
- CST7 p.Glu138Lys Uncertain significance Single submitter
- CST7 p.Gly48Glu Uncertain significance Single submitter
- CST7 p.Gly95Asp Uncertain significance Single submitter
- CST7 p.His104Asp Uncertain significance Single submitter
- CST7 p.Leu69Ser Uncertain significance Single submitter
- CST7 p.Val131Gly Uncertain significance Single submitter
- CST7 p.Val131Met Uncertain significance Single submitter
- CST7 p.Val57Ala Uncertain significance Single submitter
All CST7 variants
Likely benign 1
- p.Arg106Ser Single submitter
Uncertain significance 17
- p.Ala9Val Single submitter ⚠
- p.Arg33His Single submitter ⚠
- p.Arg96Ser Single submitter ⚠
- p.Asn61His Single submitter ⚠
- p.Cys63Arg Single submitter ⚠
- p.Cys99Ser Single submitter ⚠
- p.Glu138Gln Single submitter ⚠
- p.Glu138Lys Single submitter ⚠
- p.Gly48Glu Single submitter ⚠
- p.Gly95Asp Single submitter ⚠
- p.His104Asp Single submitter ⚠
- p.Leu69Ser Single submitter ⚠
- p.Phe70Val Single submitter ⚠
- p.Pro36Leu Single submitter ⚠
- p.Val131Gly Single submitter ⚠
- p.Val131Met Single submitter ⚠
- p.Val57Ala Single submitter ⚠