Sugi Variant

Sugi Variant/CANT1

CANT1 — 436 ClinVar variants

All ClinVar germline CANT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 126 flagged for review →

28 Pathogenic · 9 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 25 Conflicting · 24 Benign · 5 Benign/Likely benign · 175 Likely benign · 160 Uncertain significance

Full CANT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 126

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 9

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

Predictors lean, ClinVar uncertain 61

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

Predictors split 55

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

All CANT1 variants

Pathogenic 28

Pathogenic/Likely pathogenic 9

  • c.836-9G>A Multiple submitters epiphyseal dysplasia, multiple, 7
  • p.Arg300Cys Multiple submitters Inborn genetic diseases
  • p.Arg63fs Multiple submitters Desbuquois dysplasia 1
  • p.Glu215Lys Multiple submitters Desbuquois dysplasia 1
  • p.Leu25fs Multiple submitters epiphyseal dysplasia, multiple, 7
  • p.Pro245Leu Multiple submitters Desbuquois dysplasia 1
  • p.Ser303fs Multiple submitters Desbuquois dysplasia 1
  • p.Trp77fs Multiple submitters Desbuquois dysplasia 1
  • p.Trp86Ter Multiple submitters

Likely pathogenic 10

  • p.Pro299Leu Multiple submitters CANT1-related disorder
  • p.Trp247Arg Multiple submitters Joint dislocation
  • c.632-5_661dup Single submitter epiphyseal dysplasia, multiple, 7
  • p.Ala371Pro Single submitter epiphyseal dysplasia, multiple, 7
  • p.Arg300His Single submitter Desbuquois dysplasia 1
  • p.Asp89fs Single submitter epiphyseal dysplasia, multiple, 7
  • p.Gly279Asp Single submitter Desbuquois dysplasia 1
  • p.Ile171Phe Single submitter multiple epiphyseal dysplasia ⚠
  • p.Leu224Pro Single submitter epiphyseal dysplasia, multiple, 7
  • p.Met165Val Single submitter Abnormality of the skeletal system

Conflicting classifications of pathogenicity 25

Benign 24

Benign/Likely benign 5

Likely benign 175

Uncertain significance 160