Sugi Variant

Sugi Variant/MRPL3

MRPL3 — 147 ClinVar variants

All ClinVar germline MRPL3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 63 flagged for review →

1 Pathogenic · 3 Likely pathogenic · 3 Conflicting · 22 Benign · 4 Benign/Likely benign · 46 Likely benign · 68 Uncertain significance

Full MRPL3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 63

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 2

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 53

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 MRPL3 variants

Pathogenic 1

Likely pathogenic 3

  • c.93-2A>C Single submitter combined oxidative phosphorylation defect type 9
  • p.Asn137_Cys138insTer Single submitter Neonatal encephalopathy
  • p.Pro317Arg Single submitter combined oxidative phosphorylation defect type 9

Conflicting classifications of pathogenicity 3

Benign 22

Benign/Likely benign 4

Likely benign 46

Uncertain significance 68