Sugi Variant

Sugi Variant/TMEM63A

TMEM63A — 205 ClinVar variants

All ClinVar germline TMEM63A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 113 flagged for review →

4 Pathogenic · 1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 4 Conflicting · 7 Benign · 1 Benign/Likely benign · 54 Likely benign · 129 Uncertain significance

Full TMEM63A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 113

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 1

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

Predictors agree, ClinVar conflicts 3

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

Predictors lean, ClinVar uncertain 85

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

Predictors split 24

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

All TMEM63A variants

Pathogenic 4

  • p.Gly168Glu Multiple submitters leukodystrophy, hypomyelinating, 19, transient infantile
  • c.567-1G>T Single submitter leukodystrophy, hypomyelinating, 19, transient infantile
  • p.Ile462Asn Single submitter leukodystrophy
  • p.Tyr559His No assertion criteria leukodystrophy, hypomyelinating, 19, transient infantile

Pathogenic/Likely pathogenic 1

  • p.Gly567Ser Multiple submitters leukodystrophy, hypomyelinating, 19, transient infantile ⚠

Likely pathogenic 5

  • p.Arg689His Single submitter leukodystrophy, hypomyelinating, 19, transient infantile
  • p.Gly553Asp Single submitter leukodystrophy, hypomyelinating, 19, transient infantile
  • p.Gly553Ser Single submitter leukodystrophy, hypomyelinating, 19, transient infantile
  • p.Gly567Cys Single submitter leukodystrophy, hypomyelinating, 19, transient infantile
  • p.Leu195fs Single submitter leukodystrophy, hypomyelinating, 19, transient infantile

Conflicting classifications of pathogenicity 4

Benign 7

Benign/Likely benign 1

Likely benign 54

Uncertain significance 129