Is PRCD c.*266C>T pathogenic?

PRCD c.266C>T is classified Uncertain significance in PRCD (ClinVar, Multiple submitters, 2 submitters; last evaluated 2018-01-12). Low-frequency (popmax 1.05%, mid); Associated with retinitis pigmentosa.

What condition is associated with PRCD c.*266C>T?

PRCD c.*266C>T is associated with retinitis pigmentosa (ClinVar).

How common is PRCD c.*266C>T in the general population?

PRCD c.*266C>T is low-frequency (popmax 1.05%, mid) (gnomAD).

How is Retinitis pigmentosa inherited?

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

PRCD c.*266C>T

rs72860161 · VCV325478

Uncertain significance Multiple submitters

Classification

Uncertain significance

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

low-frequency (popmax 1.05%, mid)

Conditions

retinitis pigmentosa

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP -0.023	GERP -2.6
Non-coding constraint	Z 2.88	1 kb window · o/e 0.70 · regional · uncalibrated
Overall
CADD	6.245	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 1.05% Middle Eastern · 30/2,870 alleles

Filtering AF 0.752% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.653%

Overall 0.384% 1,807/470,810 alleles · low-frequency

Ancestry group	Frequency	1 in
Middle Easterngrpmax	1.05%	96
Remaining individualsnot grpmax-eligible	0.56%	178
European (non-Finnish)	0.546%	183
Ashkenazi Jewishnot grpmax-eligible	0.477%	210
Admixed American	0.432%	231
African / African-American	0.171%	584
South Asian	0.122%	817
Finnishnot grpmax-eligible	0.0773%	1,294

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
Coding: c.*266C>T
MANE Select: NM_134268 · reported on NM_001077620
dbSNP: rs72860161
Type: single nucleotide variant
Location: chr17:76543916 (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

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-c-star-266c-t (accessed [today's date]).

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