ARPC5 — 18 ClinVar variants
All ClinVar germline ARPC5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 16 flagged for review →
1 Pathogenic · 1 Benign · 16 Uncertain significance
Full ARPC5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 16
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 13
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ARPC5 p.Ala54Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARPC5 p.Asn101Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARPC5 p.Asp104Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARPC5 p.Asp32Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARPC5 p.Ile78Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARPC5 p.Ile84Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARPC5 p.Leu106Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARPC5 p.Lys13Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARPC5 p.Met124Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARPC5 p.Pro117Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARPC5 p.Pro63Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARPC5 p.Ser2Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARPC5 p.Val138Ile
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 3
The independent predictors disagree with each other — read with care.
-
ARPC5 p.Arg47Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARPC5 p.Asn61Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARPC5 p.Leu145Phe
Uncertain significance
Single submitter
Inborn genetic diseases
All ARPC5 variants
Pathogenic 1
- p.Ser8Ter No assertion criteria immunodeficiency 113 with autoimmunity and autoinflammation
Benign 1
- p.Pro117= Multiple submitters
Uncertain significance 16
- p.Ala54Thr Single submitter Inborn genetic diseases ⚠
- p.Arg47Leu Single submitter Inborn genetic diseases ⚠
- p.Asn101Ser Single submitter Inborn genetic diseases ⚠
- p.Asn61Ser Single submitter Inborn genetic diseases ⚠
- p.Asp104Gly Single submitter Inborn genetic diseases ⚠
- p.Asp32Glu Single submitter Inborn genetic diseases ⚠
- p.Ile78Val Single submitter Inborn genetic diseases ⚠
- p.Ile84Leu Single submitter Inborn genetic diseases ⚠
- p.Leu106Pro Single submitter Inborn genetic diseases ⚠
- p.Leu145Phe Single submitter Inborn genetic diseases ⚠
- p.Lys13Arg Single submitter Inborn genetic diseases ⚠
- p.Met124Leu Single submitter Inborn genetic diseases ⚠
- p.Pro117Leu Single submitter Inborn genetic diseases ⚠
- p.Pro63Leu Single submitter Inborn genetic diseases ⚠
- p.Ser2Trp Single submitter Inborn genetic diseases ⚠
- p.Val138Ile Single submitter Inborn genetic diseases ⚠