Sugi Variant

Sugi Variant/MRPS34

MRPS34 — 117 ClinVar variants

All ClinVar germline MRPS34 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 49 flagged for review →

3 Pathogenic · 1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 1 Conflicting · 10 Benign · 3 Benign/Likely benign · 38 Likely benign · 56 Uncertain significance

Full MRPS34 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 49

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

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 31

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

Predictors split 16

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

All MRPS34 variants

Pathogenic 3

  • c.322-10G>A Multiple submitters combined oxidative phosphorylation deficiency 32
  • p.Trp55Ter Single submitter
  • c.321+1G>T No assertion criteria combined oxidative phosphorylation deficiency 32

Pathogenic/Likely pathogenic 1

  • p.Gln32Ter Multiple submitters combined oxidative phosphorylation deficiency 32

Likely pathogenic 5

  • c.322-1G>A Single submitter
  • p.Arg178Ter Single submitter combined oxidative phosphorylation deficiency 32
  • p.Glu13Lys Single submitter combined oxidative phosphorylation deficiency 32 ⚠
  • p.Glu188Lys Single submitter combined oxidative phosphorylation deficiency 32
  • p.Val142fs Single submitter combined oxidative phosphorylation deficiency 32

Conflicting classifications of pathogenicity 1

Benign 10

Benign/Likely benign 3

Likely benign 38

Uncertain significance 56