SNRPE — 14 ClinVar variants
All ClinVar germline SNRPE variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 5 flagged for review →
2 Pathogenic · 1 Likely pathogenic · 1 Benign · 4 Likely benign · 6 Uncertain significance
Full SNRPE gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 5
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 1
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 4
The independent predictors disagree with each other — read with care.
All SNRPE variants
Pathogenic 2
- p.Gly45Ser No assertion criteria hypotrichosis 11
- p.Leu74Pro No assertion criteria hypotrichosis 11
Likely pathogenic 1
- p.Ter93PheextTer? Single submitter long QT syndrome 1
Benign 1
- c.54+223A>G No assertion criteria SNRPE-related disorder
Likely benign 4
- c.144+11A>G Single submitter
- c.145-19A>T Single submitter
- c.54+181G>A Single submitter
- p.Gly45= Single submitter
Uncertain significance 6
- c.54+219C>T Single submitter hypotrichosis 11
- p.Arg42Gln Single submitter ⚠
- p.Arg76Trp Single submitter ⚠
- p.Asn40Thr Single submitter ⚠
- p.Met41Ile Single submitter ⚠
- p.Met78Ile Single submitter ⚠