Sugi Variant

Sugi Variant/ARCN1

ARCN1 — 306 ClinVar variants

All ClinVar germline ARCN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 150 flagged for review →

23 Pathogenic · 2 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 15 Conflicting · 22 Benign · 2 Benign/Likely benign · 100 Likely benign · 136 Uncertain significance

Full ARCN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 150

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 6

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

Predictors lean, ClinVar uncertain 76

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

Predictors split 68

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

All ARCN1 variants

Pathogenic 23

  • p.Arg170Ter Multiple submitters short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
  • p.Arg312Ter Multiple submitters short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
  • p.Ala155fs Single submitter short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
  • p.Arg145fs Single submitter short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
  • p.Arg26Ter Single submitter Inborn genetic diseases
  • p.Arg288Ter Single submitter
  • p.Arg314fs Single submitter
  • p.Arg430Ter Single submitter short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
  • p.Gln367Ter Single submitter
  • p.Glu296fs Single submitter short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
  • p.Glu341fs Single submitter short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
  • p.Glu403Ter Single submitter short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
  • p.Gly185Ter Single submitter
  • p.Phe238fs Single submitter
  • p.Trp381Ter Single submitter short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
  • p.Tyr429fs Single submitter short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
  • p.Tyr56Ter Single submitter short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
  • p.Tyr58Ter Single submitter
  • p.Asp334fs No assertion criteria short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
  • p.Leu127fs No assertion criteria short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
  • p.Ser53fs No assertion criteria short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
  • p.Ser87Ter No assertion criteria short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
  • p.Val212fs No assertion criteria short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay

Pathogenic/Likely pathogenic 2

  • c.654-15A>G Multiple submitters short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
  • p.Arg435Ter Multiple submitters ARCN1-related disorder

Likely pathogenic 6

  • p.Glu78del Multiple submitters short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
  • p.Arg19Ter Single submitter short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
  • p.Gln176Ter Single submitter short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
  • p.Glu174fs Single submitter short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
  • p.Glu272Ter Single submitter short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
  • p.Trp440Ter Single submitter short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay

Conflicting classifications of pathogenicity 15

Benign 22

Benign/Likely benign 2

  • p.Ser251Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Thr262= Multiple submitters short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay

Likely benign 100

Uncertain significance 136