Sugi Variant

Sugi Variant/LMOD3

LMOD3 — 446 ClinVar variants

All ClinVar germline LMOD3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 219 flagged for review →

36 Pathogenic · 2 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 14 Conflicting · 21 Benign · 11 Benign/Likely benign · 128 Likely benign · 228 Uncertain significance

Full LMOD3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 219

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 11

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

Predictors lean, ClinVar uncertain 169

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 169

Predictors split 39

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

All LMOD3 variants

Pathogenic 36

Pathogenic/Likely pathogenic 2

  • p.Asn367fs Multiple submitters nemaline myopathy 10
  • p.Asp242fs Multiple submitters nemaline myopathy 10

Likely pathogenic 6

Conflicting classifications of pathogenicity 14

Benign 21

Benign/Likely benign 11

  • p.Ala560Val Multiple submitters nemaline myopathy 10
  • p.Arg498Gln Multiple submitters nemaline myopathy 10
  • p.Asp45= Multiple submitters nemaline myopathy 10
  • p.Gln409Arg Multiple submitters nemaline myopathy 10
  • p.Glu142= Multiple submitters nemaline myopathy 10
  • p.Glu142Asp Multiple submitters nemaline myopathy 10
  • p.Leu85Met Multiple submitters nemaline myopathy 10
  • p.Lys279= Multiple submitters nemaline myopathy 10
  • p.Lys438Met Multiple submitters nemaline myopathy 10
  • p.Met419Ile Multiple submitters nemaline myopathy 10
  • p.Met84Ile Multiple submitters nemaline myopathy 10 ⚠

Likely benign 128

  • c.1657-129A>G Multiple submitters
  • c.294+17G>A Multiple submitters nemaline myopathy 10
  • c.-140A>G Multiple submitters
  • c.*255C>T Multiple submitters
  • p.Ala43= Multiple submitters nemaline myopathy 10
  • p.Asn125= Multiple submitters nemaline myopathy 10
  • p.Asn459= Multiple submitters nemaline myopathy 10
  • p.Asp157del Multiple submitters nemaline myopathy 10
  • p.Glu445= Multiple submitters nemaline myopathy 10
  • p.Leu529= Multiple submitters nemaline myopathy 10
  • p.Pro380= Multiple submitters nemaline myopathy 10
  • p.Pro506= Multiple submitters nemaline myopathy 10
  • c.1656+12G>T Single submitter nemaline myopathy 10
  • c.1656+145A>G Single submitter
  • c.1656+9_1656+11del Single submitter nemaline myopathy 10
  • c.1656+9A>G Single submitter nemaline myopathy 10
  • c.1657-161T>C Single submitter
  • c.1657-181T>C Single submitter
  • c.1657-253C>T Single submitter
  • c.1657-5C>T Single submitter
  • c.294+15G>A Single submitter nemaline myopathy 10
  • c.294+20C>T Single submitter nemaline myopathy 10
  • c.294+7A>G Single submitter nemaline myopathy 10
  • c.295-14A>T Single submitter nemaline myopathy 10
  • c.295-20C>G Single submitter nemaline myopathy 10
  • c.295-4G>A Single submitter nemaline myopathy 10
  • c.295-5T>C Single submitter nemaline myopathy 10
  • p.Ala290= Single submitter nemaline myopathy 10
  • p.Ala329= Single submitter nemaline myopathy 10
  • p.Ala560= Single submitter nemaline myopathy 10
  • p.Arg233= Single submitter
  • p.Arg486= Single submitter nemaline myopathy 10
  • p.Arg498= Single submitter nemaline myopathy 10
  • p.Arg525= Single submitter nemaline myopathy 10
  • p.Arg89= Single submitter nemaline myopathy 10
  • p.Asn139= Single submitter nemaline myopathy 10
  • p.Asn186= Single submitter nemaline myopathy 10
  • p.Asn26= Single submitter nemaline myopathy 10
  • p.Asn281= Single submitter nemaline myopathy 10
  • p.Asn309= Single submitter nemaline myopathy 10
  • p.Asn337= Single submitter nemaline myopathy 10
  • p.Asn388= Single submitter nemaline myopathy 10
  • p.Asn67= Single submitter nemaline myopathy 10
  • p.Asn67Ser Single submitter nemaline myopathy 10
  • p.Asp153= Single submitter nemaline myopathy 10
  • p.Asp155= Single submitter nemaline myopathy 10
  • p.Asp156= Single submitter nemaline myopathy 10
  • p.Asp157= Single submitter nemaline myopathy 10
  • p.Asp162= Single submitter nemaline myopathy 10
  • p.Asp21= Single submitter nemaline myopathy 10
  • p.Asp240= Single submitter nemaline myopathy 10
  • p.Asp273= Single submitter nemaline myopathy 10
  • p.Asp483= Single submitter nemaline myopathy 10
  • p.Gln405= Single submitter nemaline myopathy 10
  • p.Gln554= Single submitter nemaline myopathy 10
  • p.Gln57= Single submitter nemaline myopathy 10
  • p.Glu104= Single submitter nemaline myopathy 10
  • p.Glu107= Single submitter nemaline myopathy 10
  • p.Glu145= Single submitter nemaline myopathy 10
  • p.Glu146= Single submitter nemaline myopathy 10
  • p.Glu150= Single submitter nemaline myopathy 10
  • p.Glu151dup Single submitter nemaline myopathy 10
  • p.Glu16= Single submitter nemaline myopathy 10
  • p.Glu174= Single submitter nemaline myopathy 10
  • p.Glu38= Single submitter nemaline myopathy 10
  • p.Glu432= Single submitter nemaline myopathy 10
  • p.Gly381= Single submitter nemaline myopathy 10
  • p.His544= Single submitter
  • p.Ile18= Single submitter nemaline myopathy 10
  • p.Ile181= Single submitter nemaline myopathy 10
  • p.Ile317= Single submitter nemaline myopathy 10
  • p.Ile327= Single submitter
  • p.Ile330= Single submitter nemaline myopathy 10
  • p.Leu123= Single submitter nemaline myopathy 10
  • p.Leu14= Single submitter nemaline myopathy 10
  • p.Leu260= Single submitter nemaline myopathy 10
  • p.Leu302= Single submitter nemaline myopathy 10
  • p.Leu32= Single submitter nemaline myopathy 10
  • p.Leu334= Single submitter nemaline myopathy 10
  • p.Leu352= Single submitter nemaline myopathy 10
  • p.Leu364= Single submitter nemaline myopathy 10
  • p.Leu410= Single submitter nemaline myopathy 10
  • p.Leu416= Single submitter nemaline myopathy 10
  • p.Leu511= Single submitter nemaline myopathy 10
  • p.Lys178= Single submitter nemaline myopathy 10
  • p.Lys212= Single submitter nemaline myopathy 10
  • p.Lys365= Single submitter nemaline myopathy 10
  • p.Lys400= Single submitter nemaline myopathy 10
  • p.Lys470= Single submitter nemaline myopathy 10
  • p.Lys496= Single submitter nemaline myopathy 10
  • p.Phe287= Single submitter nemaline myopathy 10
  • p.Phe446= Single submitter nemaline myopathy 10
  • p.Phe447= Single submitter nemaline myopathy 10
  • p.Phe485= Single submitter nemaline myopathy 10
  • p.Pro427= Single submitter nemaline myopathy 10
  • p.Pro450= Single submitter nemaline myopathy 10
  • p.Pro451= Single submitter nemaline myopathy 10
  • p.Pro46= Single submitter nemaline myopathy 10
  • p.Pro472= Single submitter nemaline myopathy 10
  • p.Pro476= Single submitter nemaline myopathy 10
  • p.Pro49= Single submitter nemaline myopathy 10
  • p.Pro500= Single submitter nemaline myopathy 10
  • p.Pro522= Single submitter nemaline myopathy 10
  • p.Pro527= Single submitter nemaline myopathy 10
  • p.Pro527Ser Single submitter nemaline myopathy 10
  • p.Pro528= Single submitter nemaline myopathy 10
  • p.Pro62= Single submitter nemaline myopathy 10
  • p.Ser2= Single submitter
  • p.Ser214= Single submitter nemaline myopathy 10
  • p.Ser37= Single submitter nemaline myopathy 10
  • p.Ser473= Single submitter nemaline myopathy 10
  • p.Ser97= Single submitter nemaline myopathy 10
  • p.Thr169= Single submitter nemaline myopathy 10
  • p.Thr225= Single submitter nemaline myopathy 10
  • p.Thr339= Single submitter nemaline myopathy 10
  • p.Thr509= Single submitter nemaline myopathy 10
  • p.Thr517= Single submitter nemaline myopathy 10
  • p.Tyr76= Single submitter
  • p.Val248= Single submitter nemaline myopathy 10
  • p.Val385= Single submitter nemaline myopathy 10
  • p.Val386= Single submitter nemaline myopathy 10
  • p.Val41= Single submitter nemaline myopathy 10
  • p.Val488= Single submitter nemaline myopathy 10
  • p.Val50= Single submitter nemaline myopathy 10
  • p.Val547= Single submitter nemaline myopathy 10
  • p.Val553= Single submitter nemaline myopathy 10
  • p.Val92= Single submitter nemaline myopathy 10
  • p.Asp154= No assertion criteria LMOD3-related disorder

Uncertain significance 228