EYS p.Thr23fs
c.67dup · rs1766217655 · VCV813180
Pathogenic/Likely pathogenic
Multiple submitters
Classification
Pathogenic/Likely pathogenic
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
ultra-rare (gnomAD MAF 1.68e-06)
Conditions
2
EYS-related disorder
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 4 of 43 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.51 | GERP 0.27, phastCons 0.012 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
dbSNP / gnomAD
Global frequency
0.000168%
via dbSNP · ultra-rare
No ancestry breakdown or filtering allele frequency is available for this variant, so BA1/BS1 cannot be assessed from this figure alone.
Variant & gene context
- Gene
- EYS
- Protein
- p.Thr23fs
- Coding
- c.67dup
- MANE Select
- NM_001142800
- dbSNP
- rs1766217655
- Type
- Duplication
- Location
- chr6:65495343 (GRCh38)
- Gene constraint
- LOEUF 0.96 · pLI <0.01 (gnomAD)
Similar variants
- EYS p.Arg2946fs Pathogenic/Likely pathogenic ★★ same condition
- EYS p.Arg3094fs Pathogenic/Likely pathogenic ★★ same condition
- EYS p.Asn2803fs Pathogenic ★★ same condition
- EYS p.Asn654fs Pathogenic/Likely pathogenic ★★ same condition
- EYS p.Glu529Ter Pathogenic/Likely pathogenic ★★ same condition
- EYS p.Ile1764fs Pathogenic/Likely pathogenic ★★ same condition
- EYS p.Ile1935fs Pathogenic/Likely pathogenic ★★ same condition
- EYS p.Leu1973fs 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/eys-p-thr23fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown