SNAP29 p.Asp33fs
c.71_96dup · VCV4849365
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
CEDNIK 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 1 of 5 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.41 | |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- SNAP29
- Protein
- p.Asp33fs
- Coding
- c.71_96dup
- MANE Select
- NM_004782
- Type
- Duplication
- Location
- chr22:20859177 (GRCh38)
- Gene constraint
- LOEUF 0.833 · pLI 0.06 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 75.85 · 2 PDB
- Residue 33
- the 'disordered' region
Disease context
CEDNIK syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor CEDNIK syndrome (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Infancy, Neonatal
Similar variants
- SNAP29 p.Leu119fs Pathogenic/Likely pathogenic ★★ same condition
- SNAP29 p.Ser163fs Pathogenic ★★ same condition
- SNAP29 p.Asp33His Uncertain significance ★ ⚠ same residue
- SNAP29 p.Arg85Ter Pathogenic/Likely pathogenic ★★ same condition
- SNAP29 p.Met1Thr Pathogenic/Likely pathogenic ★★ same condition
- SNAP29 p.Val75fs Pathogenic/Likely pathogenic ★★ same condition
- SNAP29 c.-76G>A Uncertain significance ★★ same condition
- SNAP29 c.*3014C>T 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/snap29-p-asp33fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown