Sugi Variant

Sugi Variant/CHMP1A

CHMP1A — 251 ClinVar variants

All ClinVar germline CHMP1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →

1 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 20 Conflicting · 37 Benign · 3 Benign/Likely benign · 103 Likely benign · 83 Uncertain significance

Full CHMP1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 42

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 5

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

Predictors lean, ClinVar uncertain 29

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

Predictors split 8

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

All CHMP1A variants

Pathogenic 1

Pathogenic/Likely pathogenic 1

  • c.28-13G>A Multiple submitters pontocerebellar hypoplasia type 8

Likely pathogenic 3

  • c.28-2A>G Single submitter pontocerebellar hypoplasia type 8
  • p.Ala12fs Single submitter pontocerebellar hypoplasia type 8
  • p.Gln91Ter Single submitter pontocerebellar hypoplasia

Conflicting classifications of pathogenicity 20

  • p.Ala136= Single submitter Inborn genetic diseases
  • p.Ala22Val Single submitter Inborn genetic diseases ⚠
  • p.Ala36= Single submitter Inborn genetic diseases
  • p.Ala49= Single submitter
  • p.Ala66= Single submitter
  • p.Ala66Val Single submitter Inborn genetic diseases ⚠
  • p.Ala99= Single submitter Inborn genetic diseases
  • p.Arg181His Single submitter Inborn genetic diseases ⚠
  • p.Arg68= Single submitter pontocerebellar hypoplasia type 8
  • p.Arg68His Single submitter Inborn genetic diseases ⚠
  • p.Asp70= Single submitter
  • p.Gln30Ter Single submitter pontocerebellar hypoplasia type 8
  • p.Glu116Lys Single submitter pontocerebellar hypoplasia type 1A ⚠
  • p.Leu38= Single submitter Inborn genetic diseases
  • p.Lys107= Single submitter Inborn genetic diseases
  • p.Lys17= Single submitter pontocerebellar hypoplasia type 8
  • p.Lys21= Single submitter Inborn genetic diseases
  • p.Pro142= Single submitter Inborn genetic diseases
  • p.Ser127Leu Single submitter Inborn genetic diseases ⚠
  • p.Thr86= Single submitter Inborn genetic diseases

Benign 37

Benign/Likely benign 3

Likely benign 103

Uncertain significance 83