BLTP1 p.Glu586fs
c.1756del · VCV4847798
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
Alkuraya-Kucinskas syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 18 of 88 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 2.5 | GERP -0.91, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- BLTP1
- Protein
- p.Glu586fs
- Coding
- c.1756del
- MANE Select
- NM_001384125
- Type
- Deletion
- Location
- chr4:122209162 (GRCh38)
- Residue 586
- a UniProt-annotated variant site (in alkkucs)
Disease context
Alkuraya-Kucinskas syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Antenatal, Neonatal
Similar variants
- BLTP1 p.Arg2623fs Likely pathogenic ★ same condition
- BLTP1 p.His1088fs Pathogenic ★ same condition
- BLTP1 p.Thr4470fs Pathogenic ★ same condition
- BLTP1 p.Asn1204fs Pathogenic same condition
- BLTP1 p.Ile395fs Uncertain significance same condition
- BLTP1 p.Arg968Cys Likely pathogenic ★★ ⚠ same condition
- BLTP1 p.Arg3665Gln Uncertain significance ★★ ⚠ same condition
- BLTP1 p.Arg3884Trp 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/bltp1-p-glu586fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown