Sugi Variant

Sugi Variant/GPD1

GPD1 — 173 ClinVar variants

All ClinVar germline GPD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 70 flagged for review →

9 Pathogenic · 1 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 14 Conflicting · 5 Benign · 9 Benign/Likely benign · 57 Likely benign · 66 Uncertain significance

Full GPD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 70

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 12

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

Predictors lean, ClinVar uncertain 42

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

Predictors split 16

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

All GPD1 variants

Pathogenic 9

  • c.219+1G>A Single submitter transient infantile hypertriglyceridemia and hepatosteatosis
  • p.Gln182Ter Single submitter
  • p.Gln295Ter Single submitter
  • p.Met181fs Single submitter transient infantile hypertriglyceridemia and hepatosteatosis
  • p.Thr251fs Single submitter
  • c.361-1G>C No assertion criteria transient infantile hypertriglyceridemia and hepatosteatosis
  • p.Arg269Gln No assertion criteria transient infantile hypertriglyceridemia and hepatosteatosis
  • p.Cys214Arg No assertion criteria transient infantile hypertriglyceridemia and hepatosteatosis
  • p.Trp39Ter No assertion criteria transient infantile hypertriglyceridemia and hepatosteatosis

Pathogenic/Likely pathogenic 1

  • p.Arg229Pro No assertion criteria transient infantile hypertriglyceridemia and hepatosteatosis

Likely pathogenic 12

  • p.Arg229Gln Multiple submitters transient infantile hypertriglyceridemia and hepatosteatosis
  • c.220-1G>A Single submitter transient infantile hypertriglyceridemia and hepatosteatosis
  • c.220-1G>T Single submitter transient infantile hypertriglyceridemia and hepatosteatosis
  • c.835_846+11del Single submitter
  • c.847-2A>C Single submitter
  • c.953+1G>A Single submitter transient infantile hypertriglyceridemia and hepatosteatosis
  • p.Gln31Ter Single submitter transient infantile hypertriglyceridemia and hepatosteatosis
  • p.Lys289fs Single submitter Inborn genetic diseases
  • p.Thr302fs Single submitter transient infantile hypertriglyceridemia and hepatosteatosis
  • p.Trp14Ter Single submitter Inborn genetic diseases
  • c.219+1_219+3del No assertion criteria transient infantile hypertriglyceridemia and hepatosteatosis
  • p.Glu275fs No assertion criteria familial hypercholesterolemia

Conflicting classifications of pathogenicity 14

Benign 5

Benign/Likely benign 9

Likely benign 57

Uncertain significance 66