Sugi Variant

Sugi Variant/MPDU1

MPDU1 — 128 ClinVar variants

All ClinVar germline MPDU1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 45 flagged for review →

3 Pathogenic · 14 Likely pathogenic · 9 Conflicting · 7 Benign · 2 Benign/Likely benign · 33 Likely benign · 60 Uncertain significance

Full MPDU1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 45

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 31

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

Predictors split 11

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

All MPDU1 variants

Pathogenic 3

  • p.Leu119Pro No assertion criteria MPDU1-congenital disorder of glycosylation
  • p.Leu74Ser No assertion criteria MPDU1-congenital disorder of glycosylation
  • p.Met1Thr No assertion criteria MPDU1-congenital disorder of glycosylation

Likely pathogenic 14

  • c.389-2A>G Multiple submitters MPDU1-related disorders
  • c.389-2A>T Single submitter MPDU1-congenital disorder of glycosylation
  • c.508-1G>C Single submitter MPDU1-congenital disorder of glycosylation
  • c.619-2A>G Single submitter
  • p.Cys22_Tyr23insTer Single submitter MPDU1-congenital disorder of glycosylation
  • p.Cys223fs Single submitter
  • p.Gln126Pro Single submitter MPDU1-congenital disorder of glycosylation
  • p.Gln172Ter Single submitter MPDU1-congenital disorder of glycosylation
  • p.Gly104Ser Single submitter MPDU1-congenital disorder of glycosylation
  • p.Gly67fs Single submitter MPDU1-congenital disorder of glycosylation
  • p.Ile65fs Single submitter MPDU1-congenital disorder of glycosylation
  • p.Thr189fs Single submitter
  • p.Trp103Ter Single submitter
  • p.Tyr23Ter Single submitter

Conflicting classifications of pathogenicity 9

  • c.303-16A>G Single submitter MPDU1-congenital disorder of glycosylation
  • c.618+14C>T Single submitter MPDU1-congenital disorder of glycosylation
  • p.Gly73Glu Single submitter MPDU1-congenital disorder of glycosylation ⚠
  • p.Gly7Ter Single submitter Inborn genetic diseases
  • p.Leu171fs Single submitter MPDU1-congenital disorder of glycosylation
  • p.Leu41Val Single submitter MPDU1-congenital disorder of glycosylation ⚠
  • p.Pro15Ser Single submitter MPDU1-congenital disorder of glycosylation ⚠
  • p.Tyr137= Single submitter MPDU1-congenital disorder of glycosylation
  • p.Val131= Single submitter MPDU1-congenital disorder of glycosylation

Benign 7

Benign/Likely benign 2

  • c.-73A>G Multiple submitters
  • p.Val218Leu Multiple submitters MPDU1-congenital disorder of glycosylation

Likely benign 33

  • c.103+19C>T Multiple submitters MPDU1-congenital disorder of glycosylation
  • c.169+14C>T Multiple submitters MPDU1-congenital disorder of glycosylation
  • c.302+21C>T Multiple submitters
  • c.619-17C>G Multiple submitters MPDU1-congenital disorder of glycosylation
  • p.Asn224= Multiple submitters MPDU1-congenital disorder of glycosylation
  • p.Glu4= Multiple submitters MPDU1-congenital disorder of glycosylation
  • p.Leu212= Multiple submitters MPDU1-congenital disorder of glycosylation
  • p.Leu38= Multiple submitters MPDU1-congenital disorder of glycosylation
  • p.Thr216= Multiple submitters MPDU1-congenital disorder of glycosylation
  • c.103+102T>C Single submitter
  • c.104-17C>G Single submitter MPDU1-congenital disorder of glycosylation
  • c.170-5C>T Single submitter MPDU1-congenital disorder of glycosylation
  • c.302+7G>A Single submitter
  • c.302+8G>T Single submitter
  • c.303-14T>C Single submitter MPDU1-congenital disorder of glycosylation
  • c.303-9A>G Single submitter MPDU1-congenital disorder of glycosylation
  • c.388+10A>G Single submitter
  • c.388+16C>G Single submitter
  • c.388+59C>G Single submitter
  • c.619-12T>C Single submitter MPDU1-congenital disorder of glycosylation
  • c.-34G>A Single submitter
  • c.-36C>T Single submitter
  • p.Ala3= Single submitter MPDU1-congenital disorder of glycosylation
  • p.Asn179= Single submitter MPDU1-congenital disorder of glycosylation
  • p.Leu148= Single submitter
  • p.Leu156= Single submitter MPDU1-congenital disorder of glycosylation
  • p.Lys69= Single submitter
  • p.Phe194= Single submitter MPDU1-congenital disorder of glycosylation
  • p.Pro8= Single submitter
  • p.Pro8Leu Single submitter Inborn genetic diseases
  • p.Ser197= Single submitter MPDU1-congenital disorder of glycosylation
  • p.Ser221Cys Single submitter MPDU1-congenital disorder of glycosylation
  • p.Leu12= No assertion criteria MPDU1-related disorder

Uncertain significance 60

  • p.Ala187Val Multiple submitters MPDU1-congenital disorder of glycosylation ⚠
  • p.Arg200Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Ile50Thr Multiple submitters MPDU1-congenital disorder of glycosylation ⚠
  • p.Leu18Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Lys238Arg Multiple submitters MPDU1-congenital disorder of glycosylation ⚠
  • p.Thr113Met Multiple submitters Inborn genetic diseases ⚠
  • c.169+4T>G Single submitter Inborn genetic diseases
  • c.170-1G>A Single submitter MPDU1-congenital disorder of glycosylation
  • c.388+17del Single submitter MPDU1-congenital disorder of glycosylation
  • c.508-9C>T Single submitter MPDU1-congenital disorder of glycosylation
  • c.*105G>A Single submitter MPDU1-congenital disorder of glycosylation
  • c.*135C>G Single submitter MPDU1-congenital disorder of glycosylation
  • c.*255A>G Single submitter MPDU1-congenital disorder of glycosylation
  • c.*27C>T Single submitter MPDU1-congenital disorder of glycosylation
  • c.*399G>C Single submitter MPDU1-congenital disorder of glycosylation
  • c.*462C>T Single submitter MPDU1-congenital disorder of glycosylation
  • c.*652C>T Single submitter MPDU1-congenital disorder of glycosylation
  • p.Ala135Thr Single submitter MPDU1-congenital disorder of glycosylation ⚠
  • p.Ala228Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala52Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn161Ser Single submitter Inborn genetic diseases ⚠
  • p.Asp31His Single submitter Inborn genetic diseases
  • p.Cys22Trp Single submitter MPDU1-congenital disorder of glycosylation ⚠
  • p.Gln243His Single submitter MPDU1-congenital disorder of glycosylation ⚠
  • p.Gln247Leu Single submitter MPDU1-congenital disorder of glycosylation ⚠
  • p.Gln77Pro Single submitter Inborn genetic diseases ⚠
  • p.Glu4Lys Single submitter MPDU1-congenital disorder of glycosylation ⚠
  • p.Gly138Ser Single submitter MPDU1-congenital disorder of glycosylation ⚠
  • p.Gly215Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly45Val Single submitter Inborn genetic diseases ⚠
  • p.Ile205Val Single submitter MPDU1-congenital disorder of glycosylation ⚠
  • p.Leu134Val Single submitter Inborn genetic diseases ⚠
  • p.Leu198Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu46Pro Single submitter MPDU1-congenital disorder of glycosylation ⚠
  • p.Lys242Gln Single submitter MPDU1-congenital disorder of glycosylation ⚠
  • p.Lys245= Single submitter MPDU1-congenital disorder of glycosylation
  • p.Lys39Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys39Asn Single submitter Inborn genetic diseases ⚠
  • p.Phe191Leu Single submitter MPDU1-congenital disorder of glycosylation ⚠
  • p.Phe194Ser Single submitter Inborn genetic diseases ⚠
  • p.Phe27Leu Single submitter Inborn genetic diseases ⚠
  • p.Phe63Leu Single submitter MPDU1-congenital disorder of glycosylation
  • p.Pro150= Single submitter MPDU1-congenital disorder of glycosylation
  • p.Pro150_Leu151insTer Single submitter
  • p.Pro19Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro211Ala Single submitter MPDU1-congenital disorder of glycosylation ⚠
  • p.Ser146Leu Single submitter MPDU1-congenital disorder of glycosylation ⚠
  • p.Ser160fs Single submitter MPDU1-congenital disorder of glycosylation
  • p.Ser197Pro Single submitter MPDU1-congenital disorder of glycosylation ⚠
  • p.Ser221del Single submitter MPDU1-congenital disorder of glycosylation
  • p.Ser43Arg Single submitter Inborn genetic diseases ⚠
  • p.Thr113Ser Single submitter MPDU1-congenital disorder of glycosylation ⚠
  • p.Thr182Ile Single submitter Inborn genetic diseases ⚠
  • p.Trp235Arg Single submitter Inborn genetic diseases ⚠
  • p.Tyr137Cys Single submitter MPDU1-congenital disorder of glycosylation ⚠
  • p.Tyr92Cys Single submitter ⚠
  • p.Val143Leu Single submitter Inborn genetic diseases ⚠
  • p.Val28= Single submitter MPDU1-congenital disorder of glycosylation
  • p.Val28Ile Single submitter Inborn genetic diseases ⚠
  • p.Val62Met Single submitter MPDU1-congenital disorder of glycosylation ⚠