SLC35A2 p.Asp321=
c.963C>T · rs1602337852 · VCV749593
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 5.8 | GERP 1.6, phastCons 1 |
| Overall | ||
| CADD | 7.396 | PHRED · no single calibrated threshold — expert panels disagree |
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
- SLC35A2
- Protein
- p.Asp321=
- Coding
- c.963C>T
- MANE Select
- NM_005660
- dbSNP
- rs1602337852
- Type
- single nucleotide variant
- Location
- chrX:48904946 (GRCh38)
- Structure
- AlphaFold pLDDT 80.59
- Residue 321
- a UniProt-annotated variant site (in cdg2m); a UniProt-annotated variant site (in cdg2m; reduced udp-galactose transport in patient fibroblasts)
Similar variants
- SLC35A2 p.Asp321Gly Uncertain significance ★ ⚠ same residue
- SLC35A2 p.Gly282Arg Pathogenic ★★ same type
- SLC35A2 p.Met1Val Pathogenic/Likely pathogenic ★★ same type
- SLC35A2 p.Tyr267Cys Likely pathogenic ★★ same type
- SLC35A2 p.Val331Ile Pathogenic ★★ same type
- SLC35A2 c.19+1G>C Uncertain significance ★★ same type
- SLC35A2 p.Ala11Ser Uncertain significance ★★ ⚠ same type
- SLC35A2 p.Ala12Gly Uncertain significance ★★ ⚠ same type
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/slc35a2-p-asp321 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown