SRSF7 — 17 ClinVar variants
All ClinVar germline SRSF7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 13 flagged for review →
1 Benign · 2 Likely benign · 14 Uncertain significance
Full SRSF7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 13
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 lean, ClinVar uncertain 5
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 8
The independent predictors disagree with each other — read with care.
- SRSF7 p.Arg129Ser Uncertain significance Single submitter
- SRSF7 p.Arg145His Uncertain significance Single submitter
- SRSF7 p.Arg156Gly Uncertain significance Single submitter
- SRSF7 p.Arg169His Uncertain significance Single submitter
- SRSF7 p.Arg229Cys Uncertain significance Single submitter
- SRSF7 p.Asp68Asn Uncertain significance Single submitter
- SRSF7 p.Ser179Thr Uncertain significance Single submitter
- SRSF7 p.Arg97Gly Uncertain significance No assertion criteria
All SRSF7 variants
Benign 1
- c.663-?_*1534+?dup Single submitter
Uncertain significance 14
- p.Ala174Pro Single submitter ⚠
- p.Arg129Ser Single submitter ⚠
- p.Arg145His Single submitter ⚠
- p.Arg156Gly Single submitter ⚠
- p.Arg169His Single submitter ⚠
- p.Arg229Cys Single submitter ⚠
- p.Arg230Gly Single submitter ⚠
- p.Asp68Asn Single submitter ⚠
- p.Gly152Val Single submitter ⚠
- p.Ile166Thr Single submitter ⚠
- p.Phe100Ser Single submitter ⚠
- p.Ser123Asn Single submitter
- p.Ser179Thr Single submitter ⚠
- p.Arg97Gly No assertion criteria ⚠