ARSL p.Trp370fs
c.1108del · VCV3340124
Likely pathogenic
No assertion criteria
Classification
Likely pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
X-linked chondrodysplasia punctata 1
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 8 of 11 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 3.5 | GERP 0.47, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ARSL
- Protein
- p.Trp370fs
- Coding
- c.1108del
- MANE Select
- NM_000047
- Type
- Deletion
- Location
- chrX:2943083 (GRCh38)
- Structure
- AlphaFold pLDDT 92.57
Similar variants
- ARSL p.Leu232fs Likely pathogenic ★ same condition
- ARSL p.Leu276fs Pathogenic ★ same condition
- ARSL p.Glu503fs Uncertain significance ★ same condition
- ARSL p.Leu304_Thr306del Uncertain significance ★ same condition
- ARSL c.1289+1G>A Pathogenic/Likely pathogenic ★★ same condition
- ARSL p.Gly117Arg Pathogenic/Likely pathogenic ★★ same condition
- ARSL p.Gly73Ser Likely pathogenic ★★ ⚠ same condition
- ARSL p.Arg12Ser 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/arsl-p-trp370fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown