Sugi Variant

Sugi Variant/EFL1

EFL1 — 599 ClinVar variants

All ClinVar germline EFL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 254 flagged for review →

3 Pathogenic · 3 Likely pathogenic · 10 Conflicting · 7 Benign · 23 Benign/Likely benign · 258 Likely benign · 295 Uncertain significance

Full EFL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 254

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 8

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

Predictors lean, ClinVar uncertain 201

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 201

Predictors split 45

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

All EFL1 variants

Pathogenic 3

  • p.Gly813fs Single submitter Inborn genetic diseases
  • p.Cys883Gly No assertion criteria Shwachman-Diamond syndrome 2
  • p.Gly827fs No assertion criteria Shwachman-Diamond syndrome 2

Likely pathogenic 3

  • p.Arg754Ter Single submitter Shwachman-Diamond syndrome
  • p.His30Arg Single submitter Shwachman-Diamond syndrome
  • p.Phe505Ser Single submitter Shwachman-Diamond syndrome

Conflicting classifications of pathogenicity 10

Benign 7

Benign/Likely benign 23

Likely benign 258

Uncertain significance 295