Sugi Variant

Sugi Variant/SRSF1

SRSF1 — 24 ClinVar variants

All ClinVar germline SRSF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →

7 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 1 Conflicting · 2 Likely benign · 11 Uncertain significance

Full SRSF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 12

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 1

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

Predictors lean, ClinVar uncertain 8

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

Predictors split 3

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

All SRSF1 variants

Pathogenic 7

  • p.Ala70Thr Single submitter intellectual disability
  • p.Arg28Ter Single submitter intellectual disability
  • p.Glu33Ter Single submitter intellectual disability
  • p.Gly40Val Single submitter intellectual disability
  • p.Leu84Arg Single submitter intellectual disability
  • p.Ser126fs Single submitter intellectual disability
  • p.Tyr77Ter Single submitter intellectual disability

Pathogenic/Likely pathogenic 1

  • p.Gly4fs Multiple submitters neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities

Likely pathogenic 2

  • p.Arg122fs Single submitter neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities
  • p.Val71_Tyr72insAspAlaVal Single submitter neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities

Conflicting classifications of pathogenicity 1

Likely benign 2

Uncertain significance 11