SEM1 — 3 ClinVar variants
All ClinVar germline SEM1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1 flagged for review →
1 Likely benign · 2 Uncertain significance
Full SEM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 1
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 1
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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SEM1 n.167G>C
Uncertain significance
Single submitter
SEM1-related disorder
All SEM1 variants
Likely benign 1
- p.Glu61= Single submitter
Uncertain significance 2
- n.167G>C Single submitter SEM1-related disorder ⚠
- p.Leu30Ser Single submitter