SACS p.Glu645Ter
c.1932dup · VCV3242509
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
nonsense (stop-gain)
predicted LoF
gnomAD v4.1
Rare
Conditions
1
Charlevoix-Saguenay spastic ataxia
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 8 of 10 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -0.92 | GERP -2.9 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- SACS
- Protein
- p.Glu645Ter
- Coding
- c.1932dup
- MANE Select
- NM_014363
- Type
- Duplication
- Location
- chr13:23354679 (GRCh38)
- Gene constraint
- LOEUF 0.644 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Disease context
Charlevoix-Saguenay spastic ataxia — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Autosomal recessive spastic ataxia of Charlevoix-Saguenay (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Adolescent, Adult, Childhood, Infancy
Similar variants
- SACS p.Ala2180fs Pathogenic/Likely pathogenic ★★ same condition
- SACS p.Arg2932fs Pathogenic/Likely pathogenic ★★ same condition
- SACS p.Arg3792fs Pathogenic/Likely pathogenic ★★ same condition
- SACS p.Asn1094fs Pathogenic/Likely pathogenic ★★ same condition
- SACS p.Asn3040fs Pathogenic/Likely pathogenic ★★ same condition
- SACS p.Asp1425_Ile1426insAlaTer Pathogenic/Likely pathogenic ★★ same condition
- SACS p.Glu2280fs Pathogenic ★★ same condition
- SACS p.Ile1110fs Pathogenic/Likely 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-glu645ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown