ARF1 — 32 ClinVar variants
All ClinVar germline ARF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 14 flagged for review →
5 Pathogenic · 1 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 2 Conflicting · 1 Benign · 5 Likely benign · 14 Uncertain significance
Full ARF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 14
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 agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ARF1 p.Asp93Gly
Conflicting
Single submitter
periventricular nodular heterotopia 8
-
ARF1 p.Pro131Leu
Conflicting
Single submitter
periventricular nodular heterotopia 8
Predictors lean, ClinVar uncertain 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ARF1 p.Asn95His Uncertain significance Single submitter
-
ARF1 p.Asp67Glu
Uncertain significance
Single submitter
periventricular nodular heterotopia 8
- ARF1 p.Glu138Lys Uncertain significance Single submitter
-
ARF1 p.His80Tyr
Uncertain significance
Single submitter
periventricular nodular heterotopia 8
- ARF1 p.Ile46Met Uncertain significance Single submitter
- ARF1 p.Leu170Gln Uncertain significance Single submitter
- ARF1 p.Lys142Asn Uncertain significance Single submitter
-
ARF1 p.Pro131Ser
Uncertain significance
Single submitter
periventricular nodular heterotopia 8
- ARF1 p.Trp66Arg Uncertain significance Single submitter
- ARF1 p.Val53Gly Uncertain significance Single submitter
-
ARF1 p.Glu98Ala
Uncertain significance
No assertion criteria
Charcot-Marie-Tooth disease
-
ARF1 p.Leu170Pro
Uncertain significance
No assertion criteria
periventricular nodular heterotopia 8
All ARF1 variants
Pathogenic 5
- p.Lys127Glu Single submitter periventricular nodular heterotopia 8
- p.Phe51Leu Single submitter periventricular nodular heterotopia 8
- p.Pro131Arg Single submitter periventricular nodular heterotopia 8
- p.Val68Met Single submitter
- p.Tyr35His No assertion criteria periventricular nodular heterotopia 8
Pathogenic/Likely pathogenic 1
- p.Arg99His Multiple submitters periventricular nodular heterotopia 8
Likely pathogenic 4
- p.Arg19Cys Multiple submitters periventricular nodular heterotopia 8
- p.Gly70Ser Multiple submitters Inborn genetic diseases
- p.Thr48Ile Multiple submitters periventricular nodular heterotopia 8
- p.Arg99Cys Single submitter periventricular nodular heterotopia 8
Conflicting classifications of pathogenicity 2
- p.Asp93Gly Single submitter periventricular nodular heterotopia 8 ⚠
- p.Pro131Leu Single submitter periventricular nodular heterotopia 8 ⚠
Benign 1
- p.Val100= No assertion criteria ARF1-related disorder
Likely benign 5
Uncertain significance 14
- c.384+2T>C Single submitter
- p.Asn95His Single submitter ⚠
- p.Asp67Glu Single submitter periventricular nodular heterotopia 8 ⚠
- p.Asp72fs Single submitter periventricular nodular heterotopia 8
- p.Glu138Lys Single submitter ⚠
- p.His80Tyr Single submitter periventricular nodular heterotopia 8 ⚠
- p.Ile46Met Single submitter ⚠
- p.Leu170Gln Single submitter ⚠
- p.Lys142Asn Single submitter ⚠
- p.Pro131Ser Single submitter periventricular nodular heterotopia 8 ⚠
- p.Trp66Arg Single submitter ⚠
- p.Val53Gly Single submitter ⚠
- p.Glu98Ala No assertion criteria Charcot-Marie-Tooth disease ⚠
- p.Leu170Pro No assertion criteria periventricular nodular heterotopia 8 ⚠