Sugi Variant

Sugi Variant/VCL

VCL — 1655 ClinVar variants

All ClinVar germline VCL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 767 flagged for review →

1 Pathogenic · 4 Likely pathogenic · 90 Conflicting · 51 Benign · 29 Benign/Likely benign · 565 Likely benign · 915 Uncertain significance

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

⚑ Evidence disagreements 767

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 36

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

Predicted LoF vs a conflicting call 7

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 471

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 471

Predictors split 253

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 253

All VCL variants

Pathogenic 1

Likely pathogenic 4

Conflicting classifications of pathogenicity 90

Benign 51

Benign/Likely benign 29

  • c.1176+20G>A Multiple submitters dilated cardiomyopathy 1W
  • c.1177-15C>T Multiple submitters dilated cardiomyopathy 1W
  • c.1177-5T>C Multiple submitters dilated cardiomyopathy 1W
  • c.1353-19G>A Multiple submitters hypertrophic cardiomyopathy 15
  • c.169-11del Multiple submitters hypertrophic cardiomyopathy 15
  • c.1744-19T>G Multiple submitters dilated cardiomyopathy 1W
  • c.2434+19T>C Multiple submitters hypertrophic cardiomyopathy 15
  • c.623-30A>G Multiple submitters
  • c.874+13T>C Multiple submitters dilated cardiomyopathy 1W
  • c.*1853A>C Multiple submitters dilated cardiomyopathy 1W
  • c.*1854A>C Multiple submitters dilated cardiomyopathy 1W
  • p.Ala1111= Multiple submitters Cardiovascular phenotype
  • p.Ala524= Multiple submitters Cardiovascular phenotype
  • p.Ala933= Multiple submitters Cardiovascular phenotype
  • p.Ala934Val Multiple submitters Cardiovascular phenotype
  • p.Arg113= Multiple submitters Cardiovascular phenotype
  • p.Arg450= Multiple submitters Cardiovascular phenotype
  • p.Asn220= Multiple submitters Cardiovascular phenotype
  • p.Asp256= Multiple submitters Cardiovascular phenotype
  • p.Asp557= Multiple submitters Cardiovascular phenotype
  • p.Asp714= Multiple submitters dilated cardiomyopathy 1W
  • p.Gly315= Multiple submitters Cardiovascular phenotype
  • p.Ile388= Multiple submitters Cardiovascular phenotype
  • p.Leu122= Multiple submitters Cardiovascular phenotype
  • p.Leu542= Multiple submitters Cardiovascular phenotype
  • p.Leu854= Multiple submitters dilated cardiomyopathy 1W
  • p.Ser596= Multiple submitters Cardiovascular phenotype
  • p.Thr614= Multiple submitters Cardiovascular phenotype
  • p.Val514= Multiple submitters cardiomyopathy

Likely benign 565

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

Uncertain significance 915

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