ARF3 — 30 ClinVar variants
All ClinVar germline ARF3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 18 flagged for review →
4 Pathogenic · 1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 1 Conflicting · 2 Benign · 17 Uncertain significance
Full ARF3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 18
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.
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ARF3 p.Leu12Val
Likely pathogenic
Single submitter
intellectual disability
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ARF3 p.Pro47Ser
Conflicting
Single submitter
intellectual disability
Predictors lean, ClinVar uncertain 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ARF3 p.Ala125Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ARF3 p.Arg149Ser Uncertain significance Single submitter
- ARF3 p.Arg151His Uncertain significance Single submitter
- ARF3 p.Arg19His Uncertain significance Single submitter
-
ARF3 p.Gly50Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARF3 p.Ile13Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ARF3 p.Ile20Thr Uncertain significance Single submitter
- ARF3 p.Leu111Pro Uncertain significance Single submitter
-
ARF3 p.Leu170Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- ARF3 p.Phe51Cys Uncertain significance Single submitter
-
ARF3 p.Val92Gly
Uncertain significance
Single submitter
ARF3-related disorder
Predictors split 5
The independent predictors disagree with each other — read with care.
-
ARF3 p.Ala112Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARF3 p.Ala136Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARF3 p.Arg117Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARF3 p.Asn175Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ARF3 p.Ile139Val Uncertain significance Single submitter
All ARF3 variants
Pathogenic 4
- p.Arg19Cys Single submitter
- p.Asp67Val Single submitter intellectual disability
- p.Lys127Glu Single submitter scoliosis
- p.Thr32Asn Single submitter intellectual disability
Pathogenic/Likely pathogenic 1
- p.Asp93Asn Multiple submitters microcephaly
Likely pathogenic 5
- p.Arg99Leu Single submitter
- p.Asn126Asp Single submitter ARF3-related disorder
- p.Asn60Ile Single submitter ARF3-related disorder
- p.Asp67Ala Single submitter ARF3-related disorder
- p.Leu12Val Single submitter intellectual disability ⚠
Conflicting classifications of pathogenicity 1
- p.Pro47Ser Single submitter intellectual disability ⚠
Benign 2
- p.His80= Multiple submitters
- c.149-14dup Single submitter
Uncertain significance 17
- p.Ala112Val Single submitter Inborn genetic diseases ⚠
- p.Ala125Val Single submitter Inborn genetic diseases ⚠
- p.Ala136Thr Single submitter Inborn genetic diseases ⚠
- p.Arg117Gln Single submitter Inborn genetic diseases ⚠
- p.Arg149Ser Single submitter ⚠
- p.Arg151His Single submitter ⚠
- p.Arg19His Single submitter ⚠
- p.Asn175Ser Single submitter Inborn genetic diseases ⚠
- p.Gly50Val Single submitter Inborn genetic diseases ⚠
- p.Ile139Val Single submitter ⚠
- p.Ile13Val Single submitter Inborn genetic diseases ⚠
- p.Ile20Thr Single submitter ⚠
- p.Leu111Pro Single submitter ⚠
- p.Leu170Pro Single submitter Inborn genetic diseases ⚠
- p.Met1Thr Single submitter
- p.Phe51Cys Single submitter ⚠
- p.Val92Gly Single submitter ARF3-related disorder ⚠