NT5C — 19 ClinVar variants
All ClinVar germline NT5C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 17 flagged for review →
1 Likely benign · 18 Uncertain significance
Full NT5C 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 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NT5C p.Ala62Gly Uncertain significance Single submitter
- NT5C p.Asp73Asn Uncertain significance Single submitter
- NT5C p.Glu189Asp Uncertain significance Single submitter
- NT5C p.Glu201Val Uncertain significance Single submitter
- NT5C p.Glu86Lys Uncertain significance Single submitter
- NT5C p.His106Arg Uncertain significance Single submitter
- NT5C p.Ile143Val Uncertain significance Single submitter
- NT5C p.Pro101Arg Uncertain significance Single submitter
- NT5C p.Thr131Arg Uncertain significance Single submitter
- NT5C p.Thr176Arg Uncertain significance Single submitter
- NT5C p.Trp115Arg Uncertain significance Single submitter
- NT5C p.Val84Leu Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All NT5C variants
Likely benign 1
- p.Val149Ile Single submitter
Uncertain significance 18
- p.Ala62Gly Single submitter ⚠
- p.Arg169Gly Single submitter ⚠
- p.Arg177Gly Single submitter ⚠
- p.Asp73Asn Single submitter ⚠
- p.Asp89Tyr Single submitter ⚠
- p.Glu189Asp Single submitter ⚠
- p.Glu201Val Single submitter ⚠
- p.Glu86Lys Single submitter ⚠
- p.His106Arg Single submitter ⚠
- p.His119Gln Single submitter
- p.Ile143Val Single submitter ⚠
- p.Met87Ile Single submitter ⚠
- p.Pro101Arg Single submitter ⚠
- p.Thr131Ala Single submitter ⚠
- p.Thr131Arg Single submitter ⚠
- p.Thr176Arg Single submitter ⚠
- p.Trp115Arg Single submitter ⚠
- p.Val84Leu Single submitter ⚠