FLNA p.Val613del
c.1838_1840del · VCV4785514
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
4
heterotopia, periventricular, X-linked dominant
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 8 | GERP 1.8, phastCons 1 |
Variant & gene context
- Gene
- FLNA
- Protein
- p.Val613del
- Coding
- c.1838_1840del
- MANE Select
- NM_001110556
- Type
- Deletion
- Location
- chrX:154364708 (GRCh38)
- Structure
- AlphaFold pLDDT 77.37 · 26 PDB
- Residue 613
- a β-strand
Similar variants
- FLNA p.Arg674fs Pathogenic ★★ same condition
- FLNA p.Gln378fs Pathogenic/Likely pathogenic ★★ same condition
- FLNA p.Ter2648SerextTer? Pathogenic/Likely pathogenic ★★ same condition
- FLNA p.Val2212fs Pathogenic ★★ same condition
- FLNA p.Lys531del Uncertain significance ★★ same condition
- FLNA p.Ser1747_Pro1750del Uncertain significance ★★ same condition
- FLNA c.1065+15del Likely benign ★★ same condition
- FLNA c.1066-20del Likely benign ★★ 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/flna-p-val613del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown