Sugi Variant

Sugi Variant/PRMT7

PRMT7 — 358 ClinVar variants

All ClinVar germline PRMT7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 148 flagged for review →

21 Pathogenic · 4 Pathogenic/Likely pathogenic · 25 Likely pathogenic · 12 Conflicting · 14 Benign · 9 Benign/Likely benign · 112 Likely benign · 161 Uncertain significance

Full PRMT7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 148

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 8

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

Predictors lean, ClinVar uncertain 111

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

Predictors split 26

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

All PRMT7 variants

Pathogenic 21

  • p.Arg390Ter Multiple submitters short stature-brachydactyly-obesity-global developmental delay syndrome
  • p.Cys571Ter Multiple submitters short stature-brachydactyly-obesity-global developmental delay syndrome
  • p.Gln323Ter Multiple submitters short stature-brachydactyly-obesity-global developmental delay syndrome
  • p.Tyr159Ter Multiple submitters short stature-brachydactyly-obesity-global developmental delay syndrome
  • p.Val416fs Multiple submitters short stature-brachydactyly-obesity-global developmental delay syndrome
  • p.Asp283fs Single submitter
  • p.Asp43fs Single submitter short stature-brachydactyly-obesity-global developmental delay syndrome
  • p.Cys366Tyr Single submitter short stature-brachydactyly-obesity-global developmental delay syndrome
  • p.Gln208fs Single submitter short stature-brachydactyly-obesity-global developmental delay syndrome
  • p.Gln28Ter Single submitter short stature-brachydactyly-obesity-global developmental delay syndrome
  • p.Gln369Ter Single submitter short stature-brachydactyly-obesity-global developmental delay syndrome
  • p.Gln468Ter Single submitter Inborn genetic diseases
  • p.Glu144fs Single submitter short stature-brachydactyly-obesity-global developmental delay syndrome
  • p.Glu560fs Single submitter short stature-brachydactyly-obesity-global developmental delay syndrome
  • p.Lys65fs Single submitter
  • p.Ser33Ter Single submitter short stature-brachydactyly-obesity-global developmental delay syndrome
  • p.Tyr26fs Single submitter
  • p.Tyr391Ter Single submitter short stature-brachydactyly-obesity-global developmental delay syndrome
  • p.Tyr670fs Single submitter short stature-brachydactyly-obesity-global developmental delay syndrome
  • c.1276-1G>A No assertion criteria short stature-brachydactyly-obesity-global developmental delay syndrome
  • p.Gln50Ter No assertion criteria Neurodevelopmental abnormality

Pathogenic/Likely pathogenic 4

  • c.1056-1G>T Multiple submitters PRMT7-related disorder
  • p.Arg274Ter Multiple submitters PRMT7-related disorder
  • p.Glu108Ter Multiple submitters Inborn genetic diseases
  • p.Ser158fs Multiple submitters Inborn genetic diseases

Likely pathogenic 25

  • c.1055+2T>A Single submitter short stature-brachydactyly-obesity-global developmental delay syndrome
  • c.132+1G>A Single submitter short stature-brachydactyly-obesity-global developmental delay syndrome
  • c.1324-1G>C Single submitter PRMT7-related disorder
  • c.1413+2T>G Single submitter
  • c.282+1G>A Single submitter short stature-brachydactyly-obesity-global developmental delay syndrome
  • c.391+5G>C Single submitter
  • p.Arg32Thr Single submitter short stature-brachydactyly-obesity-global developmental delay syndrome
  • p.Arg358fs Single submitter short stature-brachydactyly-obesity-global developmental delay syndrome
  • p.Arg387Gly Single submitter short stature-brachydactyly-obesity-global developmental delay syndrome
  • p.Asp501fs Single submitter short stature-brachydactyly-obesity-global developmental delay syndrome
  • p.Gln183Ter Single submitter
  • p.Gln309His Single submitter short stature-brachydactyly-obesity-global developmental delay syndrome ⚠
  • p.Glu153fs Single submitter short stature-brachydactyly-obesity-global developmental delay syndrome
  • p.His313Tyr Single submitter short stature-brachydactyly-obesity-global developmental delay syndrome
  • p.His447Ter Single submitter short stature-brachydactyly-obesity-global developmental delay syndrome
  • p.Leu448fs Single submitter short stature-brachydactyly-obesity-global developmental delay syndrome
  • p.Leu475fs Single submitter PRMT7-related disorder
  • p.Leu594fs Single submitter
  • p.Leu78fs Single submitter PRMT7-related disorder
  • p.Phe583fs Single submitter short stature-brachydactyly-obesity-global developmental delay syndrome
  • p.Thr428Arg Single submitter short stature-brachydactyly-obesity-global developmental delay syndrome ⚠
  • p.Trp17Ter Single submitter PRMT7-related disorder
  • c.1323+2T>G No assertion criteria short stature-brachydactyly-obesity-global developmental delay syndrome
  • p.Cys407Tyr No assertion criteria short stature-brachydactyly-obesity-global developmental delay syndrome ⚠
  • p.Ile116Asn No assertion criteria short stature-brachydactyly-obesity-global developmental delay syndrome

Conflicting classifications of pathogenicity 12

  • c.-83-1G>A Single submitter short stature-brachydactyly-obesity-global developmental delay syndrome
  • p.Arg390Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg497Gln Single submitter short stature-brachydactyly-obesity-global developmental delay syndrome ⚠
  • p.Arg551Cys Single submitter ⚠
  • p.Asp677Asn Single submitter short stature-brachydactyly-obesity-global developmental delay syndrome ⚠
  • p.Cys639Arg Single submitter short stature-brachydactyly-obesity-global developmental delay syndrome
  • p.Phe652del Single submitter
  • p.Pro588Leu Single submitter Inborn genetic diseases ⚠
  • p.Thr75Met Single submitter Epileptic encephalopathy ⚠
  • p.Trp494Arg Single submitter Inborn genetic diseases ⚠
  • p.Val167Met Single submitter short stature-brachydactyly-obesity-global developmental delay syndrome ⚠
  • p.Val649Ile Single submitter short stature-brachydactyly-obesity-global developmental delay syndrome ⚠

Benign 14

Benign/Likely benign 9

Likely benign 112

Uncertain significance 161