CHD5 p.Arg584Ser
c.1750_1751delinsTC · VCV4883974
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
parenti-mignot neurodevelopmental syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 7.6 | GERP 2, phastCons 1 |
Variant & gene context
- Gene
- CHD5
- Protein
- p.Arg584Ser
- Coding
- c.1750_1751delinsTC
- MANE Select
- NM_015557
- Type
- Indel
- Location
- chr1:6146263 (GRCh38)
- Structure
- AlphaFold pLDDT 78.15 · 4 PDB
Similar variants
- CHD5 p.Glu1866Leu Likely pathogenic ★ same condition
- CHD5 p.Arg584Cys Uncertain significance ★ ⚠ same residue
- CHD5 p.Arg584Leu Uncertain significance ★ ⚠ same residue
- CHD5 c.4171+1G>A Pathogenic/Likely pathogenic ★★ same condition
- CHD5 p.Arg193Trp Pathogenic/Likely pathogenic ★★ same condition
- CHD5 c.79+5G>A Uncertain significance ★★ same condition
- CHD5 p.Ala215Val Uncertain significance ★★ same condition
- CHD5 p.Asp23Asn Uncertain significance ★★ ⚠ same condition
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/chd5-p-arg584ser (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown