Is CEP41 p.Arg360= (c.1080C>T) pathogenic?

CEP41 p.Arg360= (c.1080C>T) is classified Likely benign in CEP41 (ClinVar, Single submitter, 1 submitter; last evaluated 2020-02-21). Very rare (popmax 0.0011%, sas); Associated with Joubert syndrome 15.

What condition is associated with CEP41 p.Arg360= (c.1080C>T)?

CEP41 p.Arg360= (c.1080C>T) is associated with Joubert syndrome 15 (ClinVar).

How common is CEP41 p.Arg360= (c.1080C>T) in the general population?

CEP41 p.Arg360= (c.1080C>T) is very rare (popmax 0.0011%, sas) (gnomAD).

CEP41 p.Arg360=

c.1080C>T · rs782746850 · VCV1111708

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.0011%, sas)

Conditions

Joubert syndrome 15

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP -0.17	GERP -4, phastCons 0.005
Overall
CADD	5.6	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0011% South Asian · 1/91,088 alleles

Overall 6.84e-05% 1/1,461,878 alleles · very rare

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: CEP41
Protein: p.Arg360=
Coding: c.1080C>T
MANE Select: NM_018718
dbSNP: rs782746850
Type: single nucleotide variant
Location: chr7:130398933 (GRCh38)
Gene constraint: LOEUF 1.066 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 71.06 · 1 PDB
Residue 360: a UniProt-annotated variant site (found in a patient with joubert syndrome; likely pathogenic; digenic inheritance; the patient also carries mutation a-1447 in cc2d2a); the 'disordered' region

Full CEP41 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Joubert syndrome 15 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

CEP41 p.Arg360Cys Uncertain significance ★ ⚠ same residue
CEP41 p.Arg360Pro Uncertain significance ★ ⚠ same residue
CEP41 c.34-2A>G Pathogenic/Likely pathogenic ★★ same condition
CEP41 c.423-2A>C Pathogenic ★★ same condition
CEP41 p.Arg286Ter Pathogenic/Likely pathogenic ★★ same condition
CEP41 p.Gln140Ter Pathogenic ★★ same condition
CEP41 c.33+6G>A Uncertain significance ★★ same condition
CEP41 c.*2116T>C 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/cep41-p-arg360 (accessed [today's date]).

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