Sugi Variant

Sugi Variant/MYRF

MYRF — 428 ClinVar variants

All ClinVar germline MYRF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 195 flagged for review →

32 Pathogenic · 2 Pathogenic/Likely pathogenic · 40 Likely pathogenic · 15 Conflicting · 28 Benign · 2 Benign/Likely benign · 120 Likely benign · 189 Uncertain significance

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

⚑ Evidence disagreements 195

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 3

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

Predictors agree, ClinVar conflicts 13

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 140

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

Predictors split 38

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

All MYRF variants

Pathogenic 32

Pathogenic/Likely pathogenic 2

  • p.Gln150Ter Multiple submitters cardiac-urogenital syndrome
  • p.Gly435Arg No assertion criteria cardiac-urogenital syndrome

Likely pathogenic 40

Conflicting classifications of pathogenicity 15

Benign 28

Benign/Likely benign 2

Likely benign 120

Uncertain significance 189