Is PCARE p.Pro809fs (c.2424del) pathogenic?

PCARE p.Pro809fs (c.2424del) is classified Likely pathogenic in PCARE (ClinVar, Single submitter, 1 submitter; last evaluated 2021-05-31). Absent from gnomAD; Associated with retinitis pigmentosa 54.

What condition is associated with PCARE p.Pro809fs (c.2424del)?

PCARE p.Pro809fs (c.2424del) is associated with retinitis pigmentosa 54 (ClinVar).

How common is PCARE p.Pro809fs (c.2424del) in the general population?

PCARE p.Pro809fs (c.2424del) is absent from gnomAD (gnomAD).

How is Cone rod dystrophy inherited?

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

PCARE p.Pro809fs

c.2424del · rs2148415628 · VCV1213961

Likely pathogenic Single submitter

Classification

Likely pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

retinitis pigmentosa 54

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 1 of 2
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 1.5	GERP -1.4, phastCons 0.013

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: PCARE
Protein: p.Pro809fs
Coding: c.2424del
MANE Select: NM_001029883
dbSNP: rs2148415628
Type: Deletion
Location: chr2:29071838 (GRCh38)
Gene constraint: LOEUF 1.032 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
Structure: AlphaFold pLDDT 44.15 · 1 PDB

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

Disease context

retinitis pigmentosa 54 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Cone rod dystrophy (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive, X-linked recessive
Onset: Adolescent, Adult, Childhood
Prevalence: 1-9 / 100 000 (Europe)

Similar variants

PCARE p.Asn316fs Pathogenic ★★ same condition
PCARE p.Gln410fs Pathogenic ★★ same condition
PCARE p.His395fs Pathogenic/Likely pathogenic ★★ same condition
PCARE p.Lys257fs Pathogenic ★★ same condition
PCARE p.Lys919fs Pathogenic ★★ same condition
PCARE p.Pro514fs Pathogenic ★★ same condition
PCARE p.Ser1116fs Pathogenic/Likely pathogenic ★★ same condition
PCARE p.Pro1089del Benign ★★ 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/pcare-p-pro809fs (accessed [today's date]).

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