Sugi Variant

Sugi Variant/LAMA4

LAMA4 — 2230 ClinVar variants

All ClinVar germline LAMA4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1077 flagged for review →

1 Pathogenic · 3 Likely pathogenic · 124 Conflicting · 131 Benign · 60 Benign/Likely benign · 678 Likely benign · 1233 Uncertain significance

Full LAMA4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1077

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 agree, ClinVar conflicts 78

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

Predictors lean, ClinVar uncertain 813

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 813

Predictors split 185

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 185

All LAMA4 variants

Pathogenic 1

Likely pathogenic 3

Conflicting classifications of pathogenicity 124

Benign 131

Benign/Likely benign 60

  • c.1551+8G>A Multiple submitters dilated cardiomyopathy 1JJ
  • c.1668+12C>T Multiple submitters dilated cardiomyopathy 1JJ
  • c.1668+9G>A Multiple submitters dilated cardiomyopathy 1JJ
  • c.1669-7del Multiple submitters dilated cardiomyopathy 1JJ
  • c.196-11G>A Multiple submitters dilated cardiomyopathy 1JJ
  • c.196-9C>T Multiple submitters dilated cardiomyopathy 1JJ
  • c.2354-18A>T Multiple submitters dilated cardiomyopathy 1JJ
  • c.2493+15G>T Multiple submitters dilated cardiomyopathy 1JJ
  • c.297+8G>A Multiple submitters dilated cardiomyopathy 1JJ
  • c.2977-16T>A Multiple submitters dilated cardiomyopathy 1JJ
  • c.3111-18G>A Multiple submitters dilated cardiomyopathy 1JJ
  • c.3111-18G>T Multiple submitters dilated cardiomyopathy 1JJ
  • c.422+20G>T Multiple submitters dilated cardiomyopathy 1JJ
  • c.4665+15G>A Multiple submitters dilated cardiomyopathy 1JJ
  • c.4665+8G>T Multiple submitters dilated cardiomyopathy 1JJ
  • c.4822-3C>T Multiple submitters Cardiovascular phenotype
  • c.5207-14G>C Multiple submitters dilated cardiomyopathy 1JJ
  • p.Ala125Ser Multiple submitters cardiomyopathy
  • p.Ala152= Multiple submitters Cardiovascular phenotype
  • p.Ala162= Multiple submitters Cardiovascular phenotype
  • p.Ala1814= Multiple submitters Cardiovascular phenotype
  • p.Ala538= Multiple submitters Cardiovascular phenotype
  • p.Ala558= Multiple submitters Cardiovascular phenotype
  • p.Arg1080Gln Multiple submitters dilated cardiomyopathy 1JJ ⚠
  • p.Arg154Trp Multiple submitters dilated cardiomyopathy 1JJ ⚠
  • p.Arg214His Multiple submitters Cardiovascular phenotype
  • p.Arg545Cys Multiple submitters hypertrophic cardiomyopathy
  • p.Asn1549Ser Multiple submitters dilated cardiomyopathy 1JJ
  • p.Asn340= Multiple submitters Cardiovascular phenotype
  • p.Asn742= Multiple submitters dilated cardiomyopathy 1JJ
  • p.Asp29His Multiple submitters Cardiovascular phenotype
  • p.Asp667Tyr Multiple submitters Cardiovascular phenotype
  • p.Gln618= Multiple submitters Cardiovascular phenotype
  • p.Gln750= Multiple submitters Cardiovascular phenotype
  • p.Glu386= Multiple submitters Cardiovascular phenotype
  • p.Glu937Gly Multiple submitters Cardiovascular phenotype
  • p.Gly94Ser Multiple submitters dilated cardiomyopathy 1JJ
  • p.His308= Multiple submitters dilated cardiomyopathy 1JJ
  • p.Ile1542= Multiple submitters Cardiovascular phenotype
  • p.Ile1672= Multiple submitters dilated cardiomyopathy 1JJ
  • p.Ile1817Thr Multiple submitters Cardiovascular phenotype ⚠
  • p.Ile663Thr Multiple submitters Cardiovascular phenotype
  • p.Leu442= Multiple submitters Cardiovascular phenotype
  • p.Leu885= Multiple submitters Cardiovascular phenotype
  • p.Lys607= Multiple submitters Cardiovascular phenotype
  • p.Pro1119Arg Multiple submitters dilated cardiomyopathy 1JJ ⚠
  • p.Pro47= Multiple submitters Cardiovascular phenotype
  • p.Ser1049= Multiple submitters dilated cardiomyopathy 1JJ
  • p.Ser1438= Multiple submitters dilated cardiomyopathy 1JJ
  • p.Ser1564Ile Multiple submitters Cardiovascular phenotype
  • p.Ser296= Multiple submitters dilated cardiomyopathy 1JJ
  • p.Ser549= Multiple submitters Cardiovascular phenotype
  • p.Ser88= Multiple submitters Cardiovascular phenotype
  • p.Thr1125= Multiple submitters dilated cardiomyopathy 1JJ
  • p.Thr1780= Multiple submitters Cardiovascular phenotype
  • p.Thr345= Multiple submitters Cardiovascular phenotype
  • p.Thr744= Multiple submitters Cardiovascular phenotype
  • p.Thr801= Multiple submitters Cardiovascular phenotype
  • p.Tyr451= Multiple submitters Cardiovascular phenotype
  • p.Val1815Ile Multiple submitters dilated cardiomyopathy 1JJ

Likely benign 678

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 1233

Showing the top 300 by review status; the full set is in the sitemap.