Is CERKL p.Ile150fs (c.450_451del) pathogenic?

CERKL p.Ile150fs (c.450451del) is classified Pathogenic/Likely pathogenic in CERKL (ClinVar, Multiple submitters, 4 submitters; last evaluated 2025-05-27). No gnomAD frequency available for this variant; Associated with retinitis pigmentosa 26.

What condition is associated with CERKL p.Ile150fs (c.450_451del)?

CERKL p.Ile150fs (c.450_451del) is associated with retinitis pigmentosa 26, retinitis pigmentosa (ClinVar).

How common is CERKL p.Ile150fs (c.450_451del) in the general population?

CERKL p.Ile150fs (c.450_451del) is no gnomAD frequency available for this variant (gnomAD).

How is Retinitis pigmentosa inherited?

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

CERKL p.Ile150fs

c.450_451del · rs1574489337 · VCV812265

Pathogenic/Likely pathogenic Multiple submitters

Classification

Pathogenic/Likely pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 4 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

retinitis pigmentosa 26

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 2 of 13
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.7	GERP 1.6, phastCons 1

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

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: CERKL
Protein: p.Ile150fs
Coding: c.450_451del
MANE Select: NM_201548
dbSNP: rs1574489337
Type: Microsatellite
Location: chr2:181603867 (GRCh38)
Gene constraint: LOEUF 1.43 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 79.82

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

Disease context

retinitis pigmentosa 26 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: retinitis pigmentosa

For Retinitis pigmentosa (Orphanet):

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

Similar variants

CERKL c.1073+3_1073+6del Pathogenic/Likely pathogenic ★★ same condition
CERKL p.Cys362_Glu363delinsTer Pathogenic ★★ same condition
CERKL p.Phe123fs Pathogenic/Likely pathogenic ★★ same condition
CERKL p.Phe99fs Pathogenic/Likely pathogenic ★★ same condition
CERKL p.Glu486dup Uncertain significance ★★ same condition
CERKL p.Ile150Leu Uncertain significance ★★ ⚠ same residue
CERKL p.Asp149fs Likely pathogenic ★ same condition
CERKL p.Leu213fs 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/cerkl-p-ile150fs (accessed [today's date]).

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