Is PRCD p.Arg22Ter (c.64C>T) pathogenic?

PRCD p.Arg22Ter (c.64C>T) is classified Pathogenic in PRCD (ClinVar, Multiple submitters, 10 submitters; last evaluated 2025-08-04). Very rare (popmax 0.00162%, nfe); Associated with PRCD-related disorders.

What condition is associated with PRCD p.Arg22Ter (c.64C>T)?

PRCD p.Arg22Ter (c.64C>T) is associated with PRCD-related disorders, retinitis pigmentosa 36, inherited retinal dystrophy (ClinVar).

How common is PRCD p.Arg22Ter (c.64C>T) in the general population?

PRCD p.Arg22Ter (c.64C>T) is very rare (popmax 0.00162%, nfe) (gnomAD).

PRCD p.Arg22Ter

c.64C>T · rs387907268 · VCV37041

Pathogenic Multiple submitters

Classification

Pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 10 submitters

Consequence

nonsense (stop-gain)

predicted LoF

gnomAD v4.1

Rare

very rare (popmax 0.00162%, nfe)

Conditions

PRCD-related disorders

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 1.4	GERP 1.6, phastCons 1
Overall
CADD	36.0	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 0.00162% European (non-Finnish) · 19/1,172,162 alleles

Filtering AF 0.00104% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000835%

Overall 0.00132% 21/1,587,346 alleles · very rare

Ancestry group	Frequency	1 in
European (non-Finnish)grpmax	0.00162%	61,693
Remaining individualsnot grpmax-eligible	0.00162%	61,694
South Asian	0.00112%	88,970

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.Arg22Ter
Coding: c.64C>T
MANE Select: NM_134268 · reported on NM_001077620
dbSNP: rs387907268
Type: single nucleotide variant
Location: chr17:76540205 (GRCh38)

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

Disease context

PRCD-related disorders

Also linked: retinitis pigmentosa 36 inherited retinal dystrophy retinitis pigmentosa

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-arg22ter (accessed [today's date]).

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