RER1 — 9 ClinVar variants
All ClinVar germline RER1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 8 flagged for review →
9 Uncertain significance
Full RER1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 8
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 7
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RER1 p.Ala195Thr Uncertain significance Single submitter
- RER1 p.Gly191Ser Uncertain significance Single submitter
- RER1 p.Ile149Met Uncertain significance Single submitter
- RER1 p.Met156Leu Uncertain significance Single submitter
- RER1 p.Met92Val Uncertain significance Single submitter
- RER1 p.Phe146Leu Uncertain significance Single submitter
- RER1 p.Pro144Leu Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All RER1 variants
Uncertain significance 9
- p.Ala195Thr Single submitter ⚠
- p.Gly191Ser Single submitter ⚠
- p.Ile149Met Single submitter ⚠
- p.Met156Leu Single submitter ⚠
- p.Met92Lys Single submitter ⚠
- p.Met92Val Single submitter ⚠
- p.Phe146Leu Single submitter ⚠
- p.Pro144Leu Single submitter ⚠
- p.Ser16Leu Single submitter