Sugi Variant

Sugi Variant/NEMF

NEMF — 213 ClinVar variants

All ClinVar germline NEMF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 131 flagged for review →

18 Pathogenic · 11 Likely pathogenic · 1 Conflicting · 7 Benign · 1 Benign/Likely benign · 33 Likely benign · 142 Uncertain significance

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

⚑ Evidence disagreements 131

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 1

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

Predictors lean, ClinVar uncertain 112

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

Predictors split 18

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

All NEMF variants

Pathogenic 18

  • p.Arg671Ter Multiple submitters intellectual developmental disorder with speech delay and axonal peripheral neuropathy
  • p.Lys923fs Multiple submitters
  • p.Tyr470Ter Multiple submitters intellectual developmental disorder with speech delay and axonal peripheral neuropathy
  • p.Arg674fs Single submitter Inborn genetic diseases
  • p.Asn642fs Single submitter
  • p.Asp959delinsValTer Single submitter intellectual developmental disorder with speech delay and axonal peripheral neuropathy
  • p.Gln356Ter Single submitter intellectual developmental disorder with speech delay and axonal peripheral neuropathy
  • p.Gln445fs Single submitter
  • p.Glu172_Ile173insTer Single submitter Inborn genetic diseases
  • p.Leu690fs Single submitter
  • p.Leu829fs Single submitter
  • p.Met1Leu Single submitter
  • p.Thr1016fs Single submitter
  • p.Thr780fs Single submitter intellectual developmental disorder with speech delay and axonal peripheral neuropathy
  • p.Arg870Ter No assertion criteria intellectual developmental disorder with speech delay and axonal peripheral neuropathy
  • p.Lys672Ter No assertion criteria intellectual developmental disorder with speech delay and axonal peripheral neuropathy
  • p.Lys873fs No assertion criteria intellectual developmental disorder with speech delay and axonal peripheral neuropathy
  • p.Pro413fs No assertion criteria intellectual developmental disorder with speech delay and axonal peripheral neuropathy

Likely pathogenic 11

  • c.2096-2A>G Single submitter intellectual developmental disorder with speech delay and axonal peripheral neuropathy
  • c.807-2A>C Single submitter intellectual developmental disorder with speech delay and axonal peripheral neuropathy
  • p.Ala863fs Single submitter
  • p.Arg79Ter Single submitter
  • p.Gln445_Lys446insTer Single submitter NEMF-related disorder
  • p.Gly180fs Single submitter intellectual developmental disorder with speech delay and axonal peripheral neuropathy
  • p.Lys146fs Single submitter
  • p.Pro926Leu Single submitter ⚠
  • p.Ser982fs Single submitter intellectual developmental disorder with speech delay and axonal peripheral neuropathy
  • c.574+1G>T No assertion criteria intellectual developmental disorder with speech delay and axonal peripheral neuropathy
  • p.Arg327Ter No assertion criteria intellectual developmental disorder with speech delay and axonal peripheral neuropathy

Conflicting classifications of pathogenicity 1

  • p.Asn412fs Single submitter intellectual developmental disorder with speech delay and axonal peripheral neuropathy

Benign 7

Benign/Likely benign 1

Likely benign 33

Uncertain significance 142