Sugi Variant

Sugi Variant/ACBD6

ACBD6 — 51 ClinVar variants

All ClinVar germline ACBD6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 34 flagged for review →

6 Pathogenic · 1 Likely pathogenic · 1 Benign · 1 Benign/Likely benign · 7 Likely benign · 35 Uncertain significance

Full ACBD6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 34

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 lean, ClinVar uncertain 19

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

Predictors split 15

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

All ACBD6 variants

Pathogenic 6

  • p.Asp23fs Single submitter
  • p.Glu63Ter Single submitter neurodevelopmental disorder with progressive movement abnormalities
  • p.Leu121fs Single submitter neurodevelopmental disorder with progressive movement abnormalities
  • p.Asn161_Ile162insTer No assertion criteria neurodevelopmental disorder with progressive movement abnormalities
  • p.Asp159fs No assertion criteria neurodevelopmental disorder with progressive movement abnormalities
  • p.Val28fs No assertion criteria neurodevelopmental disorder with progressive movement abnormalities

Likely pathogenic 1

  • c.288-1G>A Single submitter Inborn genetic diseases

Benign 1

Benign/Likely benign 1

Likely benign 7

  • p.Cys41Ser Single submitter Inborn genetic diseases
  • p.Glu152= Single submitter
  • p.Phe30Ser Single submitter Inborn genetic diseases
  • c.223-6A>G No assertion criteria ACBD6-related disorder
  • c.663+7G>A No assertion criteria ACBD6-related disorder
  • c.-10G>T No assertion criteria ACBD6-related disorder
  • p.Glu18= No assertion criteria ACBD6-related disorder

Uncertain significance 35