MRNIP — 13 ClinVar variants
All ClinVar germline MRNIP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 3 flagged for review →
2 Conflicting · 1 Benign/Likely benign · 4 Likely benign · 6 Uncertain significance
Full MRNIP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 3
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 2
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 1
The independent predictors disagree with each other — read with care.
All MRNIP variants
Conflicting classifications of pathogenicity 2
Benign/Likely benign 1
- p.Asp243= Multiple submitters Paget disease of bone 3
Likely benign 4
- p.Ala230= Single submitter
- p.Gln38Ter Single submitter
- p.His241= Single submitter
- p.Lys113= Single submitter
Uncertain significance 6
- p.Arg209Gly Multiple submitters Paget disease of bone 3 ⚠
- c.*71_*74dup Single submitter
- p.Arg106Cys Single submitter ⚠
- p.Glu121Lys Single submitter ⚠
- p.Glu313Ter Single submitter neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
- c.538-1G>C No assertion criteria SQSTM1-related neurodegeneration