RCC1 — 57 ClinVar variants
All ClinVar germline RCC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 44 flagged for review →
2 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 1 Conflicting · 2 Likely benign · 49 Uncertain significance
Full RCC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 44
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
RCC1 p.Met110Ile
Pathogenic/Likely pathogenic
No assertion criteria
infection-induced acute-onset axonal neuropathy
Predictors lean, ClinVar uncertain 33
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RCC1 p.Arg217Trp Uncertain significance Single submitter
-
RCC1 p.Arg399His
Uncertain significance
Single submitter
infection-induced acute-onset axonal neuropathy
- RCC1 p.Arg5Cys Uncertain significance Single submitter
- RCC1 p.Arg5His Uncertain significance Single submitter
- RCC1 p.Arg5Ser Uncertain significance Single submitter
- RCC1 p.Asn149Ser Uncertain significance Single submitter
- RCC1 p.Asn213Lys Uncertain significance Single submitter
- RCC1 p.Asp182Asn Uncertain significance Single submitter
- RCC1 p.Asp417Asn Uncertain significance Single submitter
- RCC1 p.Asp44Asn Uncertain significance Single submitter
- RCC1 p.Glu106Asp Uncertain significance Single submitter
- RCC1 p.Glu119Lys Uncertain significance Single submitter
- RCC1 p.Glu278Asp Uncertain significance Single submitter
- RCC1 p.Glu333Ala Uncertain significance Single submitter
- RCC1 p.Glu383Lys Uncertain significance Single submitter
- RCC1 p.Gly313Glu Uncertain significance Single submitter
- RCC1 p.Pro13Ser Uncertain significance Single submitter
- RCC1 p.Pro173Ala Uncertain significance Single submitter
- RCC1 p.Pro275Leu Uncertain significance Single submitter
- RCC1 p.Pro34Leu Uncertain significance Single submitter
- RCC1 p.Ser11Phe Uncertain significance Single submitter
- RCC1 p.Ser31Arg Uncertain significance Single submitter
- RCC1 p.Ser349Leu Uncertain significance Single submitter
- RCC1 p.Ser85Asn Uncertain significance Single submitter
- RCC1 p.Thr32Ala Uncertain significance Single submitter
- RCC1 p.Thr79Ser Uncertain significance Single submitter
- RCC1 p.Tyr250Cys Uncertain significance Single submitter
- RCC1 p.Val105Ala Uncertain significance Single submitter
- RCC1 p.Val175Ile Uncertain significance Single submitter
- RCC1 p.Val23Leu Uncertain significance Single submitter
- RCC1 p.Val347Leu Uncertain significance Single submitter
- RCC1 p.Val389Met Uncertain significance Single submitter
-
RCC1 p.Val80Met
Uncertain significance
Single submitter
infection-induced acute-onset axonal neuropathy
Predictors split 10
The independent predictors disagree with each other — read with care.
- RCC1 p.Ala368Thr Uncertain significance Single submitter
-
RCC1 p.Arg399Cys
Conflicting
Single submitter
infection-induced acute-onset axonal neuropathy
- RCC1 p.Asp102Glu Uncertain significance Single submitter
- RCC1 p.Cys352Ser Uncertain significance Single submitter
- RCC1 p.Pro66Leu Uncertain significance Single submitter
- RCC1 p.Thr293Ile Uncertain significance Single submitter
- RCC1 p.Val140Ile Uncertain significance Single submitter
-
RCC1 p.Val356Leu
Uncertain significance
Single submitter
infection-induced acute-onset axonal neuropathy
- RCC1 p.Arg139His Uncertain significance No assertion criteria
- RCC1 p.Gly43Ser Pathogenic No assertion criteria
All RCC1 variants
Pathogenic 2
- p.Gly43Ser No assertion criteria ⚠
- p.Val261Met No assertion criteria infection-induced acute-onset axonal neuropathy
Pathogenic/Likely pathogenic 1
- p.Met110Ile No assertion criteria infection-induced acute-onset axonal neuropathy ⚠
Likely pathogenic 2
- p.Asn94Asp No assertion criteria
- p.Gly202Ser No assertion criteria
Conflicting classifications of pathogenicity 1
- p.Arg399Cys Single submitter infection-induced acute-onset axonal neuropathy ⚠
Likely benign 2
- p.Arg237Gln Single submitter
- p.Asp382Glu Single submitter
Uncertain significance 49
- c.73+586dup Single submitter
- c.73+609dup Single submitter
- c.73+629G>A Single submitter
- c.73+653C>T Single submitter
- c.73+661C>A Single submitter
- c.73+667A>C Single submitter
- c.73+671G>A Single submitter
- c.73+677G>A Single submitter
- p.Ala368Thr Single submitter ⚠
- p.Arg217Trp Single submitter ⚠
- p.Arg399His Single submitter infection-induced acute-onset axonal neuropathy ⚠
- p.Arg5Cys Single submitter ⚠
- p.Arg5His Single submitter ⚠
- p.Arg5Ser Single submitter ⚠
- p.Asn149Ser Single submitter ⚠
- p.Asn213Lys Single submitter ⚠
- p.Asp102Glu Single submitter ⚠
- p.Asp182Asn Single submitter ⚠
- p.Asp417Asn Single submitter ⚠
- p.Asp44Asn Single submitter ⚠
- p.Cys352Ser Single submitter ⚠
- p.Glu106Asp Single submitter ⚠
- p.Glu119Lys Single submitter ⚠
- p.Glu278Asp Single submitter ⚠
- p.Glu333Ala Single submitter ⚠
- p.Glu383Lys Single submitter ⚠
- p.Gly313Glu Single submitter ⚠
- p.Pro13Ser Single submitter ⚠
- p.Pro173Ala Single submitter ⚠
- p.Pro275Leu Single submitter ⚠
- p.Pro34Leu Single submitter ⚠
- p.Pro66Leu Single submitter ⚠
- p.Ser11Phe Single submitter ⚠
- p.Ser31Arg Single submitter ⚠
- p.Ser349Leu Single submitter ⚠
- p.Ser85Asn Single submitter ⚠
- p.Thr293Ile Single submitter ⚠
- p.Thr32Ala Single submitter ⚠
- p.Thr79Ser Single submitter ⚠
- p.Tyr250Cys Single submitter ⚠
- p.Val105Ala Single submitter ⚠
- p.Val140Ile Single submitter ⚠
- p.Val175Ile Single submitter ⚠
- p.Val23Leu Single submitter ⚠
- p.Val347Leu Single submitter ⚠
- p.Val356Leu Single submitter infection-induced acute-onset axonal neuropathy ⚠
- p.Val389Met Single submitter ⚠
- p.Val80Met Single submitter infection-induced acute-onset axonal neuropathy ⚠
- p.Arg139His No assertion criteria ⚠