Sugi Variant

Sugi Variant/DPM3

DPM3 — 69 ClinVar variants

All ClinVar germline DPM3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 38 flagged for review →

11 Pathogenic · 1 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 2 Conflicting · 1 Benign · 1 Benign/Likely benign · 16 Likely benign · 36 Uncertain significance

Full DPM3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 38

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 15

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 DPM3 variants

Pathogenic 11

  • p.Arg82Ter Single submitter DPM3-congenital disorder of glycosylation
  • p.Asp69fs Single submitter DPM3-congenital disorder of glycosylation
  • p.Gln77Ter Single submitter DPM3-congenital disorder of glycosylation
  • p.Leu14Pro Single submitter DPM3-congenital disorder of glycosylation ⚠
  • p.Thr2fs Single submitter DPM3-congenital disorder of glycosylation
  • p.Trp18Ter Single submitter DPM3-congenital disorder of glycosylation
  • p.Trp7Ter Single submitter DPM3-congenital disorder of glycosylation
  • p.Trp9Ter Single submitter DPM3-congenital disorder of glycosylation
  • p.Tyr44fs Single submitter DPM3-congenital disorder of glycosylation
  • p.Leu85Ser No assertion criteria DPM3-congenital disorder of glycosylation
  • p.Leu85Ter No assertion criteria DPM3-congenital disorder of glycosylation

Pathogenic/Likely pathogenic 1

  • p.Pro42Ala No assertion criteria DPM3-congenital disorder of glycosylation ⚠

Likely pathogenic 1

Conflicting classifications of pathogenicity 2

  • p.Ala83= Single submitter DPM3-congenital disorder of glycosylation
  • p.Arg60fs Single submitter DPM3-congenital disorder of glycosylation

Benign 1

  • p.Leu38= Single submitter DPM3-congenital disorder of glycosylation

Benign/Likely benign 1

  • p.Ala20= Multiple submitters DPM3-congenital disorder of glycosylation

Likely benign 16

  • c.-14G>C Single submitter
  • c.-5-80C>G Single submitter
  • c.-6+19C>T Single submitter
  • c.-6+6T>C Single submitter
  • c.*2A>G Single submitter
  • p.Ala43= Single submitter DPM3-congenital disorder of glycosylation
  • p.Ala53= Single submitter DPM3-congenital disorder of glycosylation
  • p.Gly10= Single submitter DPM3-congenital disorder of glycosylation
  • p.Gly27= Single submitter DPM3-congenital disorder of glycosylation
  • p.Ile13= Single submitter DPM3-congenital disorder of glycosylation
  • p.Leu14= Single submitter DPM3-congenital disorder of glycosylation
  • p.Leu21= Single submitter DPM3-congenital disorder of glycosylation
  • p.Leu74= Single submitter
  • p.Ser16= Single submitter DPM3-congenital disorder of glycosylation
  • p.Thr2= Single submitter DPM3-congenital disorder of glycosylation
  • p.Val37= Single submitter DPM3-congenital disorder of glycosylation

Uncertain significance 36