EYS p.Pro2030fs
c.6087dup · VCV4892564
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
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 30 of 43 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 1.6 | GERP -1.2, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- EYS
- Protein
- p.Pro2030fs
- Coding
- c.6087dup
- MANE Select
- NM_001142800
- Type
- Duplication
- Location
- chr6:64307073 (GRCh38)
- Gene constraint
- LOEUF 0.96 · pLI <0.01 (gnomAD)
- Residue 2030
- the laminin g-like 1 domain
Disease context
EYS-related disorder
Similar variants
- EYS p.Arg2946fs Pathogenic/Likely pathogenic ★★ same condition
- EYS p.Asn2803fs Pathogenic ★★ same condition
- EYS p.Glu529Ter Pathogenic/Likely pathogenic ★★ same condition
- EYS p.Leu1973fs Pathogenic/Likely pathogenic ★★ same condition
- EYS p.Phe2463fs Pathogenic/Likely pathogenic ★★ same condition
- EYS p.Phe3090fs Pathogenic/Likely pathogenic ★★ same condition
- EYS p.Ser1653fs Pathogenic ★★ same condition
- EYS p.Ser1785fs 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-pro2030fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown