Sugi Variant

Sugi Variant/MYBPC1

MYBPC1 — 441 ClinVar variants

All ClinVar germline MYBPC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 165 flagged for review →

5 Pathogenic · 2 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 15 Conflicting · 108 Benign · 18 Benign/Likely benign · 89 Likely benign · 197 Uncertain significance

Full MYBPC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 165

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 2

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

Predictors agree, ClinVar conflicts 8

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

Predicted LoF vs a conflicting call 2

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 118

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

Predictors split 35

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

All MYBPC1 variants

Pathogenic 5

Pathogenic/Likely pathogenic 2

  • p.Glu248Lys Multiple submitters myopathy, congenital, with tremor ⚠
  • p.Leu259Pro Multiple submitters myopathy, congenital, with tremor

Likely pathogenic 7

Conflicting classifications of pathogenicity 15

Benign 108

Benign/Likely benign 18

  • c.104-10C>A Multiple submitters arthrogryposis, distal, type 1B
  • c.1526+6C>T Multiple submitters
  • c.1928-19T>G Multiple submitters
  • c.26-9C>T Multiple submitters arthrogryposis, distal, type 1B
  • c.608+14A>G Multiple submitters myopathy, congenital, with tremor
  • c.608+9A>G Multiple submitters arthrogryposis, distal, type 1B
  • c.-46C>T Multiple submitters arthrogryposis, distal, type 1B
  • c.-93C>T Multiple submitters arthrogryposis, distal, type 1B
  • c.*169G>T Multiple submitters arthrogryposis, distal, type 1B
  • c.*45C>T Multiple submitters arthrogryposis, distal, type 1B
  • p.Leu551= Multiple submitters arthrogryposis, distal, type 1B
  • p.Leu774= Multiple submitters arthrogryposis, distal, type 1B
  • p.Ser198= Multiple submitters lethal congenital contracture syndrome 4
  • p.Thr1134= Multiple submitters arthrogryposis, distal, type 1B
  • p.Thr140= Multiple submitters arthrogryposis, distal, type 1B
  • p.Tyr670= Multiple submitters arthrogryposis, distal, type 1B
  • p.Val64= Multiple submitters arthrogryposis, distal, type 1B
  • p.Val64Ala Multiple submitters arthrogryposis, distal, type 1B

Likely benign 89

Uncertain significance 197