Sugi Variant

Sugi Variant/KCTD17

KCTD17 — 186 ClinVar variants

All ClinVar germline KCTD17 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 65 flagged for review →

2 Pathogenic · 2 Likely pathogenic · 5 Conflicting · 15 Benign · 3 Benign/Likely benign · 76 Likely benign · 83 Uncertain significance

Full KCTD17 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 65

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 3

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

Predictors lean, ClinVar uncertain 58

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

Predictors split 4

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

All KCTD17 variants

Pathogenic 2

  • p.Arg138His Multiple submitters myoclonic dystonia 26
  • p.Val183fs Single submitter myoclonic dystonia 26

Likely pathogenic 2

  • c.487-1G>T Single submitter myoclonic dystonia 26
  • p.Met154Lys No assertion criteria myoclonic dystonia 26

Conflicting classifications of pathogenicity 5

Benign 15

Benign/Likely benign 3

  • p.Arg264His Multiple submitters myoclonic dystonia 26
  • p.His135= Multiple submitters myoclonic dystonia 26
  • p.Thr33= Multiple submitters myoclonic dystonia 26

Likely benign 76

Uncertain significance 83