Sugi Variant

Sugi Variant/SRRM2

SRRM2 — 1194 ClinVar variants

All ClinVar germline SRRM2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 624 flagged for review →

47 Pathogenic · 4 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 26 Conflicting · 21 Benign · 16 Benign/Likely benign · 225 Likely benign · 834 Uncertain significance

Full SRRM2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 624

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 19

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

Predicted LoF vs a conflicting call 3

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 500

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 500

Predictors split 102

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

All SRRM2 variants

Pathogenic 47

  • p.Arg1836Ter Multiple submitters Inborn genetic diseases
  • p.Arg280Ter Multiple submitters Inborn genetic diseases
  • p.Arg628Ter Multiple submitters SRRM2-related disorder
  • c.657-1G>C Single submitter
  • p.Ala2177fs Single submitter intellectual developmental disorder, autosomal dominant 72
  • p.Ala2237fs Single submitter neurodevelopmental disorder
  • p.Ala308fs Single submitter Inborn genetic diseases
  • p.Arg1692Ter Single submitter neurodevelopmental disorder
  • p.Arg1786_Arg1787insTer Single submitter Inborn genetic diseases
  • p.Arg1885Ter Single submitter intellectual developmental disorder, autosomal dominant 72
  • p.Arg2003Ter Single submitter intellectual developmental disorder, autosomal dominant 72
  • p.Arg2009Ter Single submitter
  • p.Arg2015fs Single submitter neurodevelopmental disorder
  • p.Arg2033Ter Single submitter Inborn genetic diseases
  • p.Arg2043Ter Single submitter neurodevelopmental disorder
  • p.Arg2089Ter Single submitter neurodevelopmental disorder
  • p.Arg2689fs Single submitter Inborn genetic diseases
  • p.Arg373Ter Single submitter
  • p.Arg507Ter Single submitter SRRM2-related disorder
  • p.Arg699Ter Single submitter SRRM2-related disorder
  • p.Arg739fs Single submitter neurodevelopmental disorder
  • p.Asn1506fs Single submitter neurodevelopmental disorder
  • p.Asp337fs Single submitter
  • p.Gln1116Ter Single submitter neurodevelopmental disorder
  • p.Gln20Ter Single submitter neurodevelopmental disorder
  • p.Gln2416Ter Single submitter intellectual developmental disorder, autosomal dominant 72
  • p.Glu1353fs Single submitter intellectual developmental disorder, autosomal dominant 72
  • p.Glu46Ter Single submitter
  • p.Glu83Ter Single submitter Inborn genetic diseases
  • p.Gly991fs Single submitter neurodevelopmental disorder
  • p.Ile1402fs Single submitter neurodevelopmental disorder
  • p.Leu1510fs Single submitter neurodevelopmental disorder
  • p.Lys37fs Single submitter Inborn genetic diseases
  • p.Met2419fs Single submitter neurodevelopmental disorder
  • p.Pro1015fs Single submitter Inborn genetic diseases
  • p.Ser1073fs Single submitter intellectual developmental disorder, autosomal dominant 72
  • p.Ser1136fs Single submitter intellectual developmental disorder, autosomal dominant 72
  • p.Ser1143fs Single submitter neurodevelopmental disorder
  • p.Ser1152fs Single submitter SRRM2-related disorder
  • p.Ser1539Ter Single submitter neurodevelopmental disorder
  • p.Ser1638Ter Single submitter neurodevelopmental disorder
  • p.Ser1742Ter Single submitter
  • p.Ser1804fs Single submitter neurodevelopmental disorder
  • p.Ser212fs Single submitter intellectual developmental disorder, autosomal dominant 72
  • p.Ser838Ter Single submitter SRRM2-related disorder
  • p.Tyr36Ter Single submitter intellectual developmental disorder, autosomal dominant 72
  • p.Val1528fs Single submitter intellectual developmental disorder, autosomal dominant 72

Pathogenic/Likely pathogenic 4

  • p.Arg1875Ter Multiple submitters intellectual developmental disorder, autosomal dominant 72
  • p.Arg928fs Multiple submitters SRRM2-related disorder
  • p.Gln1513fs Multiple submitters intellectual developmental disorder, autosomal dominant 72
  • p.Thr2583fs Multiple submitters intellectual developmental disorder, autosomal dominant 72

Likely pathogenic 21

  • c.-31-2A>G Single submitter intellectual developmental disorder, autosomal dominant 72
  • p.Arg1687Ter Single submitter intellectual developmental disorder, autosomal dominant 72
  • p.Arg2260fs Single submitter Status epilepticus
  • p.Arg245Ter Single submitter intellectual developmental disorder, autosomal dominant 72
  • p.Arg2591Ter Single submitter
  • p.Arg29fs Single submitter
  • p.Arg349Ter Single submitter
  • p.Asn1361fs Single submitter intellectual developmental disorder, autosomal dominant 72
  • p.Asp1185fs Single submitter SRRM2-related disorder
  • p.Gln1002Ter Single submitter SRRM2-related disorder
  • p.Gln1288Ter Single submitter intellectual developmental disorder, autosomal dominant 72
  • p.Gln512Ter Single submitter intellectual developmental disorder, autosomal dominant 72
  • p.Gln529Ter Single submitter intellectual developmental disorder, autosomal dominant 72
  • p.Glu40fs Single submitter intellectual developmental disorder, autosomal dominant 72
  • p.Gly1518fs Single submitter
  • p.Leu1293fs Single submitter
  • p.Leu58fs Single submitter intellectual developmental disorder, autosomal dominant 72
  • p.Lys225Ter Single submitter intellectual developmental disorder, autosomal dominant 72
  • p.Ser395fs Single submitter intellectual developmental disorder, autosomal dominant 72
  • p.Thr1942fs Single submitter intellectual developmental disorder, autosomal dominant 72
  • p.Ser1999Phe No assertion criteria SRRM2-related disorder ⚠

Conflicting classifications of pathogenicity 26

Benign 21

Benign/Likely benign 16

Likely benign 225

Uncertain significance 834

Showing the top 300 by review status; the full set is in the sitemap.