Is IL17RC p.Pro323= (c.969C>T) pathogenic?

IL17RC p.Pro323= (c.969C>T) is classified Likely benign in IL17RC (ClinVar, Multiple submitters, 5 submitters; last evaluated 2026-02-01). Rare (popmax 0.246%, nfe); Associated with candidiasis, familial, 9.

What condition is associated with IL17RC p.Pro323= (c.969C>T)?

IL17RC p.Pro323= (c.969C>T) is associated with candidiasis, familial, 9 (ClinVar).

How common is IL17RC p.Pro323= (c.969C>T) in the general population?

IL17RC p.Pro323= (c.969C>T) is rare (popmax 0.246%, nfe) (gnomAD).

How is Chronic mucocutaneous candidiasis inherited?

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

IL17RC p.Pro323=

c.969C>T · rs137952141 · VCV729887

Likely benign Multiple submitters

Classification

Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 5 submitters

gnomAD v4.1

Rare

rare (popmax 0.246%, nfe)

Conditions

candidiasis, familial, 9

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	<0.2	no splice effect predicted · four deltas, not one · how we know
Constraint at this position
Conservation	phyloP -8	GERP -3.1
Overall
CADD	0.389	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.246% European (non-Finnish) · 2,891/1,176,582 alleles

Filtering AF 0.238% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.235%

Overall 0.19% 3,057/1,604,950 alleles · rare exomes 2,882/1,452,572 · genomes 175/152,378 · joint denominator

Ancestry group	Frequency	1 in
European (non-Finnish)grpmax	0.246%	407
Remaining individualsnot grpmax-eligible	0.0949%	1,053
Admixed American	0.0577%	1,732
African / African-American	0.0374%	2,671
Middle Eastern	0.0332%	3,010
Finnishnot grpmax-eligible	0.0247%	4,054
South Asian	0.0243%	4,122
East Asian	0.0112%	8,950
Ashkenazi Jewishnot grpmax-eligible	0.00341%	29,354

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: IL17RC
Protein: p.Pro323=
Coding: c.969C>T
MANE Select: NM_153460
dbSNP: rs137952141
Type: single nucleotide variant
Location: chr3:9928396 (GRCh38)
Gene constraint: LOEUF 0.777 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 74.19 · 5 PDB
Residue 323: a β-strand

Full IL17RC gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

candidiasis, familial, 9 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Chronic mucocutaneous candidiasis (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive
Onset: Childhood, Infancy

Similar variants

IL17RC c.105+146G>A Uncertain significance ★★ ⚠ same condition
IL17RC c.105+25G>A Uncertain significance ★★ ⚠ same condition
IL17RC c.105+33G>T Uncertain significance ★★ ⚠ same condition
IL17RC c.106-144G>A Uncertain significance ★★ ⚠ same condition
IL17RC p.Ala166Val Uncertain significance ★★ ⚠ same condition
IL17RC p.Ala30Ser Uncertain significance ★★ ⚠ same condition
IL17RC p.Ala326Thr Uncertain significance ★★ ⚠ same condition
IL17RC p.Ala480Val Uncertain significance ★★ ⚠ 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/il17rc-p-pro323 (accessed [today's date]).

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