Sugi Variant

Sugi Variant/MBOAT7

MBOAT7 — 236 ClinVar variants

All ClinVar germline MBOAT7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 129 flagged for review →

10 Pathogenic · 2 Pathogenic/Likely pathogenic · 17 Likely pathogenic · 4 Conflicting · 1 Benign · 1 Benign/Likely benign · 53 Likely benign · 148 Uncertain significance

Full MBOAT7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 129

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 3

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

Predictors lean, ClinVar uncertain 103

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

Predictors split 23

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

All MBOAT7 variants

Pathogenic 10

  • p.Glu253_Ala259del Multiple submitters intellectual disability, autosomal recessive 57
  • p.Leu142fs Multiple submitters intellectual disability, autosomal recessive 57
  • p.Tyr354Ter Multiple submitters intellectual disability, autosomal recessive 57
  • c.-3-2del Single submitter intellectual disability, autosomal recessive 57
  • p.Glu253fs Single submitter
  • p.Leu227fs Single submitter Inborn genetic diseases
  • p.Leu379fs Single submitter Neurodevelopmental abnormality
  • p.Thr323fs Single submitter
  • c.854+1G>C No assertion criteria intellectual disability, autosomal recessive 57
  • p.Gly274fs No assertion criteria intellectual disability, autosomal recessive 57

Pathogenic/Likely pathogenic 2

  • p.Leu231fs Multiple submitters intellectual disability, autosomal recessive 57
  • p.Ser284fs Multiple submitters MBOAT7-related disorders

Likely pathogenic 17

  • c.493+1G>T Single submitter intellectual disability, autosomal recessive 57
  • c.855-2A>G Single submitter Inborn genetic diseases
  • p.Arg271fs Single submitter intellectual disability, autosomal recessive 57
  • p.Cys372Ter Single submitter
  • p.Gln67Ter Single submitter intellectual disability, autosomal recessive 57
  • p.Glu215Ter Single submitter
  • p.Glu376fs Single submitter MBOAT7-related disorders
  • p.Glu4fs Single submitter intellectual disability, autosomal recessive 57
  • p.Leu43fs Single submitter intellectual disability, autosomal recessive 57
  • p.Pro281fs Single submitter MBOAT7-related disorders
  • p.Ser388fs Single submitter MBOAT7-related disorders
  • p.Tyr319fs Single submitter intellectual disability, autosomal recessive 57
  • p.Tyr430Ter Single submitter intellectual disability, autosomal recessive 57
  • p.Glu253Lys No assertion criteria intellectual disability, autosomal recessive 57
  • p.Gly390fs No assertion criteria intellectual disability, autosomal recessive 57
  • p.Leu84fs No assertion criteria intellectual disability
  • p.Tyr246Ter No assertion criteria MBOAT7-related disorder

Conflicting classifications of pathogenicity 4

  • p.Arg218Pro Single submitter intellectual disability, autosomal recessive 57 ⚠
  • p.Arg378Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg87Ter Single submitter intellectual disability, autosomal recessive 57
  • p.Glu467Gly Single submitter Inborn genetic diseases ⚠

Benign 1

Benign/Likely benign 1

Likely benign 53

Uncertain significance 148