Sugi Variant

Sugi Variant/MPZL2

MPZL2 — 83 ClinVar variants

All ClinVar germline MPZL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 36 flagged for review →

2 Pathogenic · 5 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 3 Conflicting · 5 Benign · 1 Benign/Likely benign · 12 Likely benign · 41 Uncertain significance

Full MPZL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 36

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 lean, ClinVar uncertain 32

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

Predictors split 4

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

All MPZL2 variants

Pathogenic 2

  • p.Ile168fs Single submitter hearing loss, autosomal recessive 111
  • p.Pro54fs Single submitter hearing loss, autosomal recessive 111

Pathogenic/Likely pathogenic 5

  • c.226-2A>T Multiple submitters MPZL2-related disorder
  • p.Ala155fs Multiple submitters MPZL2-related disorder
  • p.Gln74Ter Multiple submitters hearing loss, autosomal recessive 111
  • p.Ile24fs Multiple submitters hearing loss, autosomal recessive 111
  • p.Pro23fs Multiple submitters hearing loss, autosomal recessive 111

Likely pathogenic 14

  • p.Pro129Arg Multiple submitters Inborn genetic diseases
  • c.225+1del Single submitter MPZL2-related disorder
  • c.437-1G>A Single submitter MPZL2-related disorder
  • c.584+1G>A Single submitter hearing loss, autosomal recessive 111
  • p.Arg94Trp Single submitter hearing loss, autosomal recessive 111
  • p.Gln114Ter Single submitter
  • p.Glu102Ter Single submitter MPZL2-related disorder
  • p.Ile108fs Single submitter hearing loss, autosomal recessive 111
  • p.Leu140fs Single submitter hearing loss, autosomal recessive 111
  • p.Lys180fs Single submitter hearing loss, autosomal recessive 111
  • p.Met1Ile Single submitter hearing loss, autosomal recessive 111
  • p.Thr41fs Single submitter MPZL2-related disorder
  • c.226-1G>A No assertion criteria hearing loss, autosomal recessive 111
  • p.Trp97Ter No assertion criteria MPZL2-related disorder

Conflicting classifications of pathogenicity 3

  • p.Arg182Ter Single submitter hearing loss, autosomal recessive 111
  • p.Asp93Val Single submitter hearing loss, autosomal recessive 111
  • p.Met1Thr Single submitter MPZL2-related disorder

Benign 5

Benign/Likely benign 1

Likely benign 12

Uncertain significance 41