SACS p.Pro774=
c.2322A>G · rs1869225328 · VCV990743
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
2
Spastic paraplegia
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.019 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -6.3 | GERP -2.1 |
| Overall | ||
| CADD | 1.819 | 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
- SACS
- Protein
- p.Pro774=
- Coding
- c.2322A>G
- MANE Select
- NM_014363
- dbSNP
- rs1869225328
- Type
- single nucleotide variant
- Location
- chr13:23341554 (GRCh38)
- Gene constraint
- LOEUF 0.644 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Similar variants
- SACS c.2093+1G>A Likely pathogenic ★★ same condition
- SACS c.604+1G>A Likely pathogenic ★★ same condition
- SACS p.Ala4074Pro Pathogenic ★★ same condition
- SACS p.Arg1575Pro Pathogenic ★★ same condition
- SACS p.Arg1645Gln Likely pathogenic ★★ same condition
- SACS p.Arg1645Ter Pathogenic ★★ same condition
- SACS p.Arg1877Ter Pathogenic/Likely pathogenic ★★ same condition
- SACS p.Arg1907Ter Pathogenic ★★ 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/sacs-p-pro774 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown