Sugi Variant

Sugi Variant/MRPL44

MRPL44 — 156 ClinVar variants

All ClinVar germline MRPL44 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 71 flagged for review →

2 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 5 Conflicting · 10 Benign · 5 Benign/Likely benign · 51 Likely benign · 79 Uncertain significance

Full MRPL44 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 71

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 4

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

Predictors lean, ClinVar uncertain 55

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

Predictors split 12

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

All MRPL44 variants

Pathogenic 2

  • p.Leu267Ter Single submitter hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
  • p.Thr161fs No assertion criteria infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

Pathogenic/Likely pathogenic 1

  • p.Leu156Arg Multiple submitters MRPL44-related disorders

Likely pathogenic 3

  • p.Arg78Gln Single submitter infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
  • p.Gln106Ter Single submitter MRPL44-related disorders
  • p.Glu209fs Single submitter infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

Conflicting classifications of pathogenicity 5

Benign 10

Benign/Likely benign 5

Likely benign 51

Uncertain significance 79