Is PRCD p.Arg18Ter (c.52C>T) pathogenic?

PRCD p.Arg18Ter (c.52C>T) is classified Pathogenic in PRCD (ClinVar, Multiple submitters, 5 submitters; last evaluated 2025-05-05). Very rare (popmax 0.00284%, afr); Associated with retinitis pigmentosa.

What condition is associated with PRCD p.Arg18Ter (c.52C>T)?

PRCD p.Arg18Ter (c.52C>T) is associated with retinitis pigmentosa, retinitis pigmentosa 36, inherited retinal dystrophy (ClinVar).

How common is PRCD p.Arg18Ter (c.52C>T) in the general population?

PRCD p.Arg18Ter (c.52C>T) is very rare (popmax 0.00284%, afr) (gnomAD).

How is Retinitis pigmentosa inherited?

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

PRCD p.Arg18Ter

c.52C>T · rs527451635 · VCV987020

Pathogenic Multiple submitters

Classification

Pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 5 submitters

Consequence

nonsense (stop-gain)

predicted LoF

gnomAD v4.1

Rare

very rare (popmax 0.00284%, afr)

Conditions

retinitis pigmentosa

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	nonsense (stop-gain)	predicted loss-of-function; NMD-escape possible for C-terminal truncations
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP -0.33	GERP -3.2
Overall
CADD	34.0	PHRED · no single calibrated threshold — expert panels disagree

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

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00284% African / African-American · 2/70,348 alleles

Filtering AF 0.000472% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000214%

Overall 0.00076% 12/1,578,750 alleles · very rare

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.00284%	35,174
South Asian	0.00224%	44,592
European (non-Finnish)	0.000687%	145,635

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: PRCD
Protein: p.Arg18Ter
Coding: c.52C>T
MANE Select: NM_134268 · reported on NM_001077620
dbSNP: rs527451635
Type: single nucleotide variant
Location: chr17:76540193 (GRCh38)

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

Disease context

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

Also linked: retinitis pigmentosa 36 inherited retinal dystrophy

For Retinitis pigmentosa (Orphanet):

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

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/prcd-p-arg18ter (accessed [today's date]).

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