Sugi Variant

Sugi Variant/KIF5C

KIF5C — 332 ClinVar variants

All ClinVar germline KIF5C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 95 flagged for review →

1 Pathogenic · 3 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 4 Conflicting · 62 Benign · 5 Benign/Likely benign · 131 Likely benign · 119 Uncertain significance

Full KIF5C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 95

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 1

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 65

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

Predictors split 28

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

All KIF5C variants

Pathogenic 1

  • p.Ser89Pro Single submitter complex cortical dysplasia with other brain malformations 2

Pathogenic/Likely pathogenic 3

  • p.Glu237Lys Multiple submitters complex cortical dysplasia with other brain malformations 2
  • p.Ser90del Multiple submitters complex cortical dysplasia with other brain malformations 2
  • p.Thr93Ile Multiple submitters complex cortical dysplasia with other brain malformations 2

Likely pathogenic 7

  • p.Lys92Arg Multiple submitters complex cortical dysplasia with other brain malformations 2
  • p.Tyr135Cys Multiple submitters cerebral cortical dysplasia
  • c.1907_1913del Single submitter
  • p.Gln796fs Single submitter complex cortical dysplasia with other brain malformations 2
  • p.Glu237Gly Single submitter complex cortical dysplasia with other brain malformations 2
  • p.Glu237Val Single submitter complex cortical dysplasia with other brain malformations 2
  • p.Lys556Ter Single submitter complex cortical dysplasia with other brain malformations 2

Conflicting classifications of pathogenicity 4

  • p.Arg655Lys Single submitter complex cortical dysplasia with other brain malformations 2
  • p.Arg892Gln Single submitter complex cortical dysplasia with other brain malformations 2 ⚠
  • p.Gln761fs Single submitter complex cortical dysplasia with other brain malformations 2 ⚠
  • p.His192= Single submitter

Benign 62

Benign/Likely benign 5

Likely benign 131

Uncertain significance 119