Is CFAP300 p.Phe67fs (c.198_200delinsCC) pathogenic?

CFAP300 p.Phe67fs (c.198200delinsCC) is classified Pathogenic in CFAP300 (ClinVar, Multiple submitters, 7 submitters; last evaluated 2026-02-02). Absent from gnomAD; Associated with CFAP300-related disorder.

What condition is associated with CFAP300 p.Phe67fs (c.198_200delinsCC)?

CFAP300 p.Phe67fs (c.198_200delinsCC) is associated with CFAP300-related disorder, primary ciliary dyskinesia 1, primary ciliary dyskinesia (ClinVar).

How common is CFAP300 p.Phe67fs (c.198_200delinsCC) in the general population?

CFAP300 p.Phe67fs (c.198_200delinsCC) is absent from gnomAD (gnomAD).

CFAP300 p.Phe67fs

c.198_200delinsCC · rs1555069023 · VCV549862

Pathogenic Multiple submitters

Classification

Pathogenic

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 7 submitters

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

CFAP300-related disorder

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 3 of 7
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 1.1	GERP 2, phastCons 1

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: CFAP300
Protein: p.Phe67fs
Coding: c.198_200delinsCC
MANE Select: NM_032930
dbSNP: rs1555069023
Type: Indel
Location: chr11:102058885 (GRCh38)
Gene constraint: LOEUF 1.386 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 94.21
Residue 67: a UniProt-annotated variant site (in cild38; loss of ciliary axoneme inner dynein arm and outer dynein arm structures in patient respiratory epithelial cells)

Full CFAP300 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

CFAP300-related disorder

Also linked: primary ciliary dyskinesia 1 primary ciliary dyskinesia ciliary dyskinesia, primary, 38

Similar variants

CFAP300 p.Phe67del Likely benign same residue
CFAP300 p.Arg121Ter Pathogenic ★★ same condition
CFAP300 p.Arg144Ter Pathogenic/Likely pathogenic ★★ same condition
CFAP300 p.Gln160Ter Pathogenic ★★ same condition
CFAP300 p.Gln52Ter Pathogenic ★★ same condition
CFAP300 p.His259Arg Pathogenic/Likely pathogenic ★★ same condition
CFAP300 c.110+16A>G Benign ★★ same condition
CFAP300 c.192+59A>C 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/cfap300-p-phe67fs (accessed [today's date]).

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