RNASE1 — 16 ClinVar variants
All ClinVar germline RNASE1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 13 flagged for review →
1 Likely benign · 15 Uncertain significance
Full RNASE1 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 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RNASE1 p.Ala33Val Uncertain significance Single submitter
- RNASE1 p.Arg126Gln Uncertain significance Single submitter
- RNASE1 p.Asn116His Uncertain significance Single submitter
- RNASE1 p.His147Tyr Uncertain significance Single submitter
- RNASE1 p.Ile134Val Uncertain significance Single submitter
- RNASE1 p.Ser103Asn Uncertain significance Single submitter
- RNASE1 p.Ser46Phe Uncertain significance Single submitter
- RNASE1 p.Val14Phe Uncertain significance Single submitter
- RNASE1 p.Val85Ile Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All RNASE1 variants
Likely benign 1
- p.Tyr101Phe Single submitter
Uncertain significance 15
- p.Ala33Val Single submitter ⚠
- p.Arg126Gln Single submitter ⚠
- p.Arg60His Single submitter ⚠
- p.Asn116His Single submitter ⚠
- p.Asn95Lys Single submitter ⚠
- p.His147Tyr Single submitter ⚠
- p.Ile134Met Single submitter
- p.Ile134Val Single submitter ⚠
- p.Ile135Thr Single submitter ⚠
- p.Met41Thr Single submitter
- p.Ser103Asn Single submitter ⚠
- p.Ser46Phe Single submitter ⚠
- p.Ser50Ile Single submitter ⚠
- p.Val14Phe Single submitter ⚠
- p.Val85Ile Single submitter ⚠