GNMT — 9 ClinVar variants
All ClinVar germline GNMT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 4 flagged for review →
1 Conflicting · 2 Benign/Likely benign · 2 Likely benign · 4 Uncertain significance
Full GNMT gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 4
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 1
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 GNMT variants
Conflicting classifications of pathogenicity 1
- p.Ile283Val Single submitter ⚠
Benign/Likely benign 2
- c.452-16C>T Multiple submitters
- p.Ile137= Multiple submitters
Likely benign 2
- c.594+13GGGGTG[7] Single submitter
- p.Gly229= Single submitter
Uncertain significance 4
- p.Ala144Thr Single submitter ⚠
- p.Ala216Ser Single submitter ⚠
- p.Glu114Lys Single submitter
- p.Trp48Arg Single submitter ⚠