Sugi Variant

Sugi Variant/EMC10

EMC10 — 84 ClinVar variants

All ClinVar germline EMC10 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →

8 Pathogenic · 1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 2 Benign · 19 Likely benign · 49 Uncertain significance

Full EMC10 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 47

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 lean, ClinVar uncertain 22

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

Predictors split 25

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

All EMC10 variants

Pathogenic 8

  • p.Arg97Ter Multiple submitters Inborn genetic diseases
  • p.Gly96fs Multiple submitters neurodevelopmental disorder with dysmorphic facies and variable seizures
  • c.188-2A>C Single submitter neurodevelopmental disorder with dysmorphic facies and variable seizures
  • c.585-1G>T Single submitter
  • c.679-1G>A No assertion criteria neurodevelopmental disorder with dysmorphic facies and variable seizures
  • p.Asn182fs No assertion criteria neurodevelopmental disorder with dysmorphic facies and variable seizures
  • p.Gln87Ter No assertion criteria neurodevelopmental disorder with dysmorphic facies and variable seizures
  • p.Ser23fs No assertion criteria neurodevelopmental disorder with dysmorphic facies and variable seizures

Pathogenic/Likely pathogenic 1

  • p.Arg115Ter Multiple submitters neurodevelopmental disorder with dysmorphic facies and variable seizures

Likely pathogenic 5

  • p.Arg24Ter Single submitter neurodevelopmental disorder with dysmorphic facies and variable seizures
  • p.Arg44Ter Single submitter neurodevelopmental disorder with dysmorphic facies and variable seizures
  • p.Tyr108Ter Single submitter neurodevelopmental disorder with dysmorphic facies and variable seizures
  • p.Val185fs Single submitter neurodevelopmental disorder with dysmorphic facies and variable seizures
  • p.Glu42Ter No assertion criteria neurodevelopmental disorder with dysmorphic facies and variable seizures

Benign 2

  • c.679-267dup Single submitter neurodevelopmental disorder with dysmorphic facies and variable seizures
  • p.Gly117Arg Single submitter

Likely benign 19

Uncertain significance 49