Sugi Variant

Sugi Variant/MRPL12

MRPL12 — 119 ClinVar variants

All ClinVar germline MRPL12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 48 flagged for review →

1 Pathogenic · 1 Conflicting · 14 Benign · 1 Benign/Likely benign · 48 Likely benign · 54 Uncertain significance

Full MRPL12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 48

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 39

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

Predictors split 8

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

All MRPL12 variants

Pathogenic 1

  • p.Ala181Val No assertion criteria combined oxidative phosphorylation deficiency 45

Conflicting classifications of pathogenicity 1

Benign 14

Benign/Likely benign 1

Likely benign 48

Uncertain significance 54