Sugi Variant

Sugi Variant/EIF2AK4

EIF2AK4 — 568 ClinVar variants

All ClinVar germline EIF2AK4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 177 flagged for review →

53 Pathogenic · 4 Pathogenic/Likely pathogenic · 29 Likely pathogenic · 8 Conflicting · 140 Benign · 18 Benign/Likely benign · 127 Likely benign · 189 Uncertain significance

Full EIF2AK4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 177

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 6

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

Predictors lean, ClinVar uncertain 143

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

Predictors split 28

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

All EIF2AK4 variants

Pathogenic 53

Pathogenic/Likely pathogenic 4

  • c.4065+1G>T Multiple submitters pulmonary venoocclusive disease 2
  • p.Arg1337Ter Multiple submitters pulmonary venoocclusive disease 2
  • p.Arg463Ter Multiple submitters pulmonary venoocclusive disease 2
  • p.Tyr83Ter Multiple submitters EIF2AK4-related disorders

Likely pathogenic 29

  • c.1660+1G>A Single submitter EIF2AK4-related disorders
  • c.3408-2A>G Single submitter
  • c.4066-1G>T Single submitter pulmonary venoocclusive disease 2
  • c.513+2T>G Single submitter pulmonary venoocclusive disease 2
  • p.Arg585Gln Single submitter pulmonary venoocclusive disease 2
  • p.Asp691fs Single submitter pulmonary venoocclusive disease 2
  • p.Cys519Ter Single submitter EIF2AK4-related disorder
  • p.Gln28Ter Single submitter pulmonary venoocclusive disease 2
  • p.Glu1437Ter Single submitter pulmonary venoocclusive disease 2
  • p.Glu188fs Single submitter EIF2AK4-related disorder
  • p.Glu526fs Single submitter
  • p.Gly1265fs Single submitter EIF2AK4-related disorders
  • p.Ile1533fs Single submitter pulmonary venoocclusive disease 1
  • p.Lys143fs Single submitter EIF2AK4-related disorders
  • p.Ser1535fs Single submitter EIF2AK4-related disorders
  • p.Ser1561fs Single submitter pulmonary venoocclusive disease 2
  • p.Ser770fs Single submitter pulmonary venoocclusive disease 2
  • p.Trp1432Ter Single submitter pulmonary venoocclusive disease 2
  • c.257+4A>C No assertion criteria pulmonary venoocclusive disease 2
  • p.Gly1109Arg No assertion criteria pulmonary venoocclusive disease 2
  • p.Gly599Arg No assertion criteria pulmonary venoocclusive disease 2
  • p.His1202Leu No assertion criteria pulmonary venoocclusive disease 2
  • p.Ile948fs No assertion criteria pulmonary venoocclusive disease 2
  • p.Leu1019fs No assertion criteria pulmonary venoocclusive disease 2
  • p.Leu1295Arg No assertion criteria pulmonary venoocclusive disease 2
  • p.Leu387fs No assertion criteria pulmonary venoocclusive disease 2
  • p.Ser1589_Leu1590insTer No assertion criteria pulmonary arterial hypertension
  • p.Ser909Arg No assertion criteria pulmonary venoocclusive disease 2
  • p.Val607Gly No assertion criteria pulmonary venoocclusive disease 2 ⚠

Conflicting classifications of pathogenicity 8

Benign 140

Benign/Likely benign 18

Likely benign 127

Uncertain significance 189