Sugi Variant

Sugi Variant/MARK2

MARK2 — 144 ClinVar variants

All ClinVar germline MARK2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 69 flagged for review →

18 Pathogenic · 1 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 1 Conflicting · 4 Benign · 7 Likely benign · 98 Uncertain significance

Full MARK2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 69

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, 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 57

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

Predictors split 11

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

All MARK2 variants

Pathogenic 18

  • c.337+1G>T Single submitter autism spectrum disorder
  • p.Arg584Ter Single submitter autism spectrum disorder
  • p.Arg594Ter Single submitter
  • p.Gln222fs Single submitter MARK2-associated disorder
  • p.Glu442Ter Single submitter
  • p.Gly580fs Single submitter intellectual developmental disorder, autosomal dominant 76
  • p.Tyr267Ter Single submitter MARK2-associated neurodevelopmental disorder
  • p.Tyr351Ter Single submitter
  • c.1101+1G>A No assertion criteria autism spectrum disorder
  • c.1514+2G-T No assertion criteria intellectual developmental disorder, autosomal dominant 76
  • c.989-1G>A No assertion criteria autism spectrum disorder
  • p.Cys723fs No assertion criteria autism spectrum disorder
  • p.Gln253Ter No assertion criteria autism spectrum disorder
  • p.Gln747Ter No assertion criteria autism spectrum disorder
  • p.Gly590fs No assertion criteria autism spectrum disorder
  • p.Leu97fs No assertion criteria autism spectrum disorder
  • p.Phe271fs No assertion criteria intellectual developmental disorder, autosomal dominant 76
  • p.Val395fs No assertion criteria autism spectrum disorder

Pathogenic/Likely pathogenic 1

  • p.Ala80Val No assertion criteria autism spectrum disorder

Likely pathogenic 15

  • c.1102-1G>C Single submitter
  • c.1934+1G>A Single submitter MARK2-associated neurodevelopmental disorder
  • c.2006+2T>G Single submitter intellectual developmental disorder, autosomal dominant 76
  • p.Glu666Ter Single submitter
  • p.Gly135Arg Single submitter intellectual developmental disorder, autosomal dominant 76
  • p.Gly770Asp Single submitter neurodevelopmental disorder
  • p.Leu647fs Single submitter intellectual disability
  • p.Tyr215Ter Single submitter intellectual developmental disorder, autosomal dominant 76
  • c.1514+2T>G No assertion criteria autism spectrum disorder
  • c.235-2A>G No assertion criteria autism spectrum disorder
  • p.Arg664Ter No assertion criteria autism spectrum disorder
  • p.Arg764Pro No assertion criteria autism spectrum disorder
  • p.Leu506fs No assertion criteria autism spectrum disorder
  • p.Thr87fs No assertion criteria autism spectrum disorder
  • p.Val752Ala No assertion criteria autism spectrum disorder

Conflicting classifications of pathogenicity 1

  • p.Arg71Ter Single submitter intellectual developmental disorder, autosomal dominant 76 ⚠

Benign 4

Likely benign 7

Uncertain significance 98