Sugi Variant

Sugi Variant/CLMP

CLMP — 63 ClinVar variants

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

5 Pathogenic · 4 Likely pathogenic · 5 Benign · 5 Likely benign · 44 Uncertain significance

Full CLMP 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 vs ClinVar 1

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

Predictors lean, ClinVar uncertain 34

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

Predictors split 7

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

All CLMP variants

Pathogenic 5

  • p.Arg222Ter Multiple submitters intestinal pseudo-obstruction
  • p.Gly141Ter Single submitter
  • p.Arg274Gln No assertion criteria congenital short bowel syndrome, autosomal recessive ⚠
  • p.Glu77fs No assertion criteria congenital short bowel syndrome, autosomal recessive
  • p.Val124Asp No assertion criteria congenital short bowel syndrome, autosomal recessive

Likely pathogenic 4

  • c.28+1G>A Single submitter congenital short bowel syndrome, autosomal recessive
  • p.Arg192Ter Single submitter congenital short bowel syndrome, autosomal recessive
  • p.Arg82Ter Single submitter congenital short bowel syndrome, autosomal recessive
  • p.Leu8Ter Single submitter congenital short bowel syndrome, autosomal recessive

Benign 5

Likely benign 5

Uncertain significance 44