Sugi Variant

Sugi Variant/LRRC56

LRRC56 — 473 ClinVar variants

All ClinVar germline LRRC56 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 183 flagged for review →

15 Pathogenic · 2 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 9 Conflicting · 37 Benign · 16 Benign/Likely benign · 196 Likely benign · 190 Uncertain significance

Full LRRC56 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 183

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 7

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

Predictors lean, ClinVar uncertain 160

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 160

Predictors split 16

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

All LRRC56 variants

Pathogenic 15

Pathogenic/Likely pathogenic 2

  • p.Tyr53Ter Multiple submitters ciliary dyskinesia, primary, 39
  • p.Val50fs Multiple submitters primary ciliary dyskinesia 1

Likely pathogenic 8

Conflicting classifications of pathogenicity 9

Benign 37

Benign/Likely benign 16

Likely benign 196

Uncertain significance 190