Sugi Variant

Sugi Variant/EPRS1

EPRS1 — 534 ClinVar variants

All ClinVar germline EPRS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 266 flagged for review →

14 Pathogenic · 1 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 13 Conflicting · 26 Benign · 15 Benign/Likely benign · 171 Likely benign · 286 Uncertain significance

Full EPRS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 266

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 11

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

Predictors lean, ClinVar uncertain 184

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 184

Predictors split 71

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

All EPRS1 variants

Pathogenic 14

Pathogenic/Likely pathogenic 1

  • p.Arg1278Ter Multiple submitters leukodystrophy, hypomyelinating, 15

Likely pathogenic 8

  • c.1494+1G>T Single submitter
  • c.2181+1G>T Single submitter EPRS-related disorders
  • p.Arg339Ter Single submitter leukodystrophy, hypomyelinating, 15
  • p.Asp638fs Single submitter leukodystrophy, hypomyelinating, 15
  • p.Gln1188Ter Single submitter leukodystrophy, hypomyelinating, 15
  • p.Gln1246Ter Single submitter EPRS-related disorders
  • p.His311fs Single submitter EPRS-related disorders
  • p.Pro1482Thr Single submitter leukodystrophy, hypomyelinating, 15

Conflicting classifications of pathogenicity 13

Benign 26

Benign/Likely benign 15

Likely benign 171

Uncertain significance 286