Sugi Variant

Sugi Variant/MYH10

MYH10 — 376 ClinVar variants

All ClinVar germline MYH10 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 239 flagged for review →

6 Pathogenic · 10 Likely pathogenic · 2 Conflicting · 11 Benign · 2 Benign/Likely benign · 66 Likely benign · 279 Uncertain significance

Full MYH10 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 239

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 1

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

Predicted LoF vs a conflicting call 1

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 174

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 174

Predictors split 62

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

All MYH10 variants

Pathogenic 6

  • p.Arg1502Pro Single submitter coloboma
  • p.Glu1774Ter Single submitter complex neurodevelopmental disorder with or without congenital anomalies
  • p.Glu939Ter Single submitter Inborn genetic diseases
  • p.Lys1119del Single submitter
  • p.Ser1176fs Single submitter MYH10-related disorder
  • p.Gln1352Ter No assertion criteria Complex neurodevelopmental disorders

Likely pathogenic 10

Conflicting classifications of pathogenicity 2

Benign 11

Benign/Likely benign 2

Likely benign 66

Uncertain significance 279