ARSD p.Trp331Ter
c.992G>A · rs111939179 · VCV3060832
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
Consequence
nonsense (stop-gain)
predicted LoF
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
ARSD-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | nonsense (stop-gain) | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 6 of 10 |
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 0.68 | GERP 0.3, phastCons 0.17 |
| Overall | ||
| CADD | 36.0 | PHRED · no single calibrated threshold — expert panels disagree |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- ARSD
- Protein
- p.Trp331Ter
- Coding
- c.992G>A
- MANE Select
- NM_001669
- dbSNP
- rs111939179
- Type
- single nucleotide variant
- Location
- chrX:2915564 (GRCh38)
- Structure
- AlphaFold pLDDT 92.71
Disease context
ARSD-related disorder
Similar variants
- ARSD p.Trp331Gly Uncertain significance ★ ⚠ same residue
- ARSD c.1000+810T>C Likely benign same condition
- ARSD c.1000+882A>G Likely benign same condition
- ARSD c.1000+901A>G Likely benign same condition
- ARSD c.1000+929T>C Likely benign same condition
- ARSD p.Ala282Asp Likely benign same condition
- ARSD p.Cys238Phe Likely benign same condition
- ARSD p.Gln318His 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/arsd-p-trp331ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown