PRMT9 — 144 ClinVar variants

All ClinVar germline PRMT9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 107 flagged for review →

19 Pathogenic · 2 Conflicting · 9 Likely benign · 114 Uncertain significance

Full PRMT9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 107

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 2

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

Predictors lean, ClinVar uncertain 92

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

All PRMT9 variants

Pathogenic 19

  • c.576-2A>G Single submitter Neurodevelopmental abnormality
  • c.(846+1_847-1 Single submitter Neurodevelopmental abnormality
  • p.Arg359Ter Single submitter Neurodevelopmental abnormality
  • p.Gln382fs Single submitter Neurodevelopmental abnormality
  • p.Gln440Ter Single submitter Neurodevelopmental abnormality
  • p.Glu139Ter Single submitter Neurodevelopmental abnormality
  • p.Gly189Arg Single submitter Neurodevelopmental abnormality
  • p.Gly781fs Single submitter Neurodevelopmental abnormality
  • p.Ile245fs Single submitter PRMT9-associated neurodevelopmental disorder
  • p.Ile786fs Single submitter Neurodevelopmental abnormality
  • p.Leu182fs Single submitter Neurodevelopmental abnormality
  • p.Leu279fs Single submitter Neurodevelopmental abnormality
  • p.Leu36fs Single submitter Neurodevelopmental abnormality
  • p.Leu86Ter Single submitter Neurodevelopmental abnormality
  • p.Leu87fs Single submitter Neurodevelopmental abnormality
  • p.Thr164fs Single submitter Neurodevelopmental abnormality
  • p.Trp73Ter Single submitter Neurodevelopmental abnormality
  • p.Tyr90Ter Single submitter Neurodevelopmental abnormality
  • p.Val640fs Single submitter Neurodevelopmental abnormality

Conflicting classifications of pathogenicity 2

Likely benign 9

Uncertain significance 114