RMC1 — 11 ClinVar variants
All ClinVar germline RMC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 3 flagged for review →
2 Benign · 3 Likely benign · 6 Uncertain significance
Full RMC1 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 RMC1 variants
Likely benign 3
- c.1006+12T>A Single submitter
- c.653+9G>A Single submitter
- p.Val48= Single submitter
Uncertain significance 6
- p.Ala431Val Single submitter ⚠
- p.Gln130fs Single submitter
- p.Gln353Ter Single submitter
- p.Gly185Cys Single submitter ⚠
- p.His181Arg Single submitter ⚠
- p.Tyr315Ter Single submitter