ARPC4 — 27 ClinVar variants
All ClinVar germline ARPC4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
1 Conflicting · 5 Likely benign · 21 Uncertain significance
Full ARPC4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 12
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
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ARPC4 p.Arg158Cys
Conflicting
Single submitter
developmental delay, language impairment, and ocular abnormalities
Predictors lean, ClinVar uncertain 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ARPC4 p.Arg156Cys Uncertain significance Single submitter
-
ARPC4 p.Arg156His
Uncertain significance
Single submitter
developmental delay, language impairment, and ocular abnormalities
-
ARPC4 p.Arg32Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- ARPC4 p.Arg71Trp Uncertain significance Single submitter
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ARPC4 p.Asp113Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARPC4 p.Asp80Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARPC4 p.Cys21Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ARPC4 p.Phe25Tyr Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All ARPC4 variants
Conflicting classifications of pathogenicity 1
- p.Arg158Cys Single submitter developmental delay, language impairment, and ocular abnormalities ⚠
Likely benign 5
- c.235-13T>C Single submitter
- c.330+9C>T Single submitter
- c.4-7C>A Single submitter
- p.Arg158= Single submitter
- p.Thr4= Single submitter
Uncertain significance 21
- c.3+11C>G Single submitter Inborn genetic diseases
- c.3+11C>T Single submitter Inborn genetic diseases
- c.3+14G>C Single submitter
- c.3+16C>T Single submitter Inborn genetic diseases
- c.3+17C>A Single submitter Inborn genetic diseases
- c.3+20G>A Single submitter Inborn genetic diseases
- c.3+38G>A Single submitter Inborn genetic diseases
- c.3+47C>T Single submitter Inborn genetic diseases
- c.3+55T>G Single submitter Inborn genetic diseases
- p.Ala19Gly Single submitter ⚠
- p.Arg156Cys Single submitter ⚠
- p.Arg156His Single submitter developmental delay, language impairment, and ocular abnormalities ⚠
- p.Arg32Gln Single submitter Inborn genetic diseases ⚠
- p.Arg71Trp Single submitter ⚠
- p.Asp113Asn Single submitter Inborn genetic diseases ⚠
- p.Asp80Glu Single submitter Inborn genetic diseases ⚠
- p.Cys21Ser Single submitter Inborn genetic diseases ⚠
- p.Ile114Val Single submitter Inborn genetic diseases ⚠
- p.Ile159Val Single submitter ⚠
- p.Phe25Tyr Single submitter ⚠
- p.Tyr8fs Single submitter