Sugi Variant

Sugi Variant/DEGS1

DEGS1 — 111 ClinVar variants

All ClinVar germline DEGS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →

7 Pathogenic · 4 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 5 Conflicting · 8 Benign · 1 Benign/Likely benign · 24 Likely benign · 54 Uncertain significance

Full DEGS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 55

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 vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 4

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

Predictors lean, ClinVar uncertain 37

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

Predictors split 12

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

All DEGS1 variants

Pathogenic 7

Pathogenic/Likely pathogenic 4

  • p.Arg173Ter Multiple submitters leukodystrophy, hypomyelinating, 18
  • p.Asn113Asp Multiple submitters DEGS1-related Hypomyelinating Leukodystrophy
  • p.Trp107Ter Multiple submitters leukodystrophy, hypomyelinating, 18
  • p.Tyr283_Tyr284insTer Multiple submitters leukodystrophy, hypomyelinating, 18

Likely pathogenic 8

  • p.Arg133Trp Multiple submitters leukodystrophy, hypomyelinating, 18
  • p.His259Tyr Multiple submitters leukodystrophy, hypomyelinating, 18
  • p.Leu251fs Multiple submitters Inborn genetic diseases
  • c.82+1G>C Single submitter
  • c.826-1G>A Single submitter leukodystrophy, hypomyelinating, 18
  • p.Ala280Val Single submitter leukodystrophy, hypomyelinating, 18
  • p.Lys67Asn Single submitter DEGS1-related Hypomyelinating Leukodystrophy ⚠
  • p.Met1Thr Single submitter leukodystrophy, hypomyelinating, 18

Conflicting classifications of pathogenicity 5

Benign 8

Benign/Likely benign 1

Likely benign 24

Uncertain significance 54