Sugi Variant

Sugi Variant/SHMT2

SHMT2 — 91 ClinVar variants

All ClinVar germline SHMT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 60 flagged for review →

3 Likely pathogenic · 1 Conflicting · 7 Benign · 11 Likely benign · 69 Uncertain significance

Full SHMT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 60

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 42

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 17

The independent predictors disagree with each other — read with care.

All SHMT2 variants

Likely pathogenic 3

  • p.Asn379Asp Single submitter neurodevelopmental disorder
  • p.Pro499Ala Single submitter neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
  • p.Thr186Arg Single submitter neurodevelopmental disorder

Conflicting classifications of pathogenicity 1

Benign 7

Likely benign 11

Uncertain significance 69