Sugi Variant

Sugi Variant/DYNC2LI1

DYNC2LI1 — 238 ClinVar variants

All ClinVar germline DYNC2LI1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 73 flagged for review →

13 Pathogenic · 2 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 4 Conflicting · 40 Benign · 4 Benign/Likely benign · 78 Likely benign · 83 Uncertain significance

Full DYNC2LI1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 73

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 2

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

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 55

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

Predictors split 13

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

All DYNC2LI1 variants

Pathogenic 13

  • c.993+1G>A Single submitter asphyxiating thoracic dystrophy 1
  • p.Arg107fs Single submitter
  • p.Arg207Ter Single submitter short-rib thoracic dysplasia 15 with polydactyly
  • p.Leu173fs Single submitter
  • p.Lys140_Val141insTer Single submitter short-rib thoracic dysplasia 15 with polydactyly
  • p.Met1Thr Single submitter short-rib thoracic dysplasia 15 with polydactyly
  • p.Ser216_Leu217insTer Single submitter
  • p.Thr220Ile Single submitter short-rib thoracic dysplasia 15 with polydactyly ⚠
  • c.655-9del No assertion criteria short-rib thoracic dysplasia 15 with polydactyly
  • c.993+3A>G No assertion criteria asphyxiating thoracic dystrophy 1
  • p.Glu334Ter No assertion criteria asphyxiating thoracic dystrophy 1
  • p.Gly42fs No assertion criteria short-rib thoracic dysplasia 15 with polydactyly
  • p.Trp7fs No assertion criteria short-rib thoracic dysplasia 15 with polydactyly

Pathogenic/Likely pathogenic 2

  • p.Leu117Val Multiple submitters DYNC2LI1-related disorder ⚠
  • p.Trp124Ter Multiple submitters asphyxiating thoracic dystrophy 1

Likely pathogenic 14

Conflicting classifications of pathogenicity 4

Benign 40

Benign/Likely benign 4

Likely benign 78

Uncertain significance 83