Sugi Variant

Sugi Variant/LAMA5

LAMA5 — 2314 ClinVar variants

All ClinVar germline LAMA5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 760 flagged for review →

7 Pathogenic · 19 Likely pathogenic · 73 Conflicting · 252 Benign · 86 Benign/Likely benign · 818 Likely benign · 1059 Uncertain significance

Full LAMA5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 760

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 5

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

Predictors agree, ClinVar conflicts 58

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

Predictors lean, ClinVar uncertain 660

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 660

Predictors split 37

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

All LAMA5 variants

Pathogenic 7

  • p.Arg781fs Single submitter LAMA5-related disorder
  • p.Gln1122Ter Single submitter Inborn genetic diseases
  • p.Gln2295Ter Single submitter nephrotic syndrome, IIa 26
  • p.Val1005fs Single submitter nephrotic syndrome, IIa 26
  • c.1282+1G>A No assertion criteria nephrotic syndrome, IIa 26
  • p.Arg2720Ter No assertion criteria nephrotic syndrome, IIa 26
  • p.Arg3078Ter No assertion criteria nephrotic syndrome, IIa 26

Likely pathogenic 19

Conflicting classifications of pathogenicity 73

Benign 252

Benign/Likely benign 86

Likely benign 818

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

Uncertain significance 1059

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