Is EYS p.Lys2811fs (c.8431_8432insT) pathogenic?

EYS p.Lys2811fs (c.84318432insT) is classified Likely pathogenic in EYS (ClinVar, Single submitter, 1 submitter; last evaluated 2024-08-02). Associated with retinitis pigmentosa 25.

What condition is associated with EYS p.Lys2811fs (c.8431_8432insT)?

EYS p.Lys2811fs (c.8431_8432insT) is associated with retinitis pigmentosa 25 (ClinVar).

How is Retinitis pigmentosa inherited?

Typically Autosomal dominant, Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

EYS p.Lys2811fs

c.8431_8432insT · VCV4814663

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Rare

Conditions

retinitis pigmentosa 25

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	escapes	premature termination codon in the last exon (43 of 43) — the truncated protein is likely expressed. PVS1 input, not an applied code
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 1.4	GERP -1.1, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Variant & gene context

Gene: EYS
Protein: p.Lys2811fs
Coding: c.8431_8432insT
MANE Select: NM_001142800
Type: Insertion
Location: chr6:63721599 (GRCh38)
Gene constraint: LOEUF 0.96 · pLI <0.01 (gnomAD)
Residue 2811: the laminin g-like 4 domain

Full EYS gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

retinitis pigmentosa 25 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Retinitis pigmentosa (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive, Mitochondrial inheritance
Onset: Adolescent, Adult, Childhood
Prevalence: 1-5 / 10 000 (Europe)

Similar variants

EYS p.Thr2805fs Pathogenic/Likely pathogenic ★★ same condition
EYS p.Val2804_Thr2805insTer Pathogenic ★★ same condition
EYS p.Gln2912fs Likely pathogenic ★ same condition
EYS p.Tyr3135delinsGlyGlyIleSerAlaHisCysLysLeuArgLeuProGlySerArgHisSerProAlaSerAlaSerGlnGlyAlaGlyThrThrGlyAlaArgHisTyrAlaArgLeuIlePheCysIlePheSerArgAspGlyValSerProPheTer Pathogenic ★ same condition
EYS p.Lys2811Ile Uncertain significance ★ same residue
EYS c.863-22_863-21insTTC Benign ★ same condition
EYS c.1056+1G>A Pathogenic/Likely pathogenic ★★ same condition
EYS c.1056+3A>C 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-lys2811fs (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown