CWF19L1

Chr 10AR

CWF19 like cell cycle control factor 1

NCBI Gene: 55280ENSG00000095485UniProt: Q69YN2

Primary Disease Associations & Inheritance

Spinocerebellar ataxia, autosomal recessive 17MIM #616127
AR
176
ClinVar variants
42
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— CWF19L1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
42 Pathogenic / Likely Pathogenic· 84 VUS of 176 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.15LOEUF
pLI 0.000
Z-score 0.89
OE 0.83 (0.61–1.15)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.10Z-score
OE missense 0.82 (0.73–0.91)
232 obs / 283.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.83 (0.61–1.15)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.82 (0.73–0.91)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.87
0≤1.21.6
LoF obs/exp: 26 / 31.4Missense obs/exp: 232 / 283.9Syn Z: 1.01

ClinVar Variant Classifications

176 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic26
Likely Pathogenic16
VUS84
Likely Benign17
Benign11
Conflicting2
26
Pathogenic
16
Likely Pathogenic
84
VUS
17
Likely Benign
11
Benign
2
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
6
1
19
0
26
Likely Pathogenic
9
3
4
0
16
VUS
0
74
10
0
84
Likely Benign
0
5
4
8
17
Benign
0
6
2
3
11
Conflicting
—2
Total15893911156

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CWF19L1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Gene2Phenotype Curations

CWF19L1-related developmental delay with epilepsy, progressive ataxia and cerebellar atrophy

strong
ARUndeterminedAbsent Gene Product
Dev. Disorders
G2P ↗
splice donor variantframeshift variantmissense variant

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Spinocerebellar ataxia, autosomal recessive 17

MIM #616127

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Expansion of the phenotypic and molecular spectrum of CWF19L1-related disorder.
Alvarez C et al.·Clin Genet
2023Review
Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy.
Nguyen M et al.·Eur J Hum Genet
2016Case report
The ERLIN1-CHUK-CWF19L1 gene cluster influences liver fat deposition and hepatic inflammation in the NHLBI Family Heart Study.
Feitosa MF et al.·Atherosclerosis
2013Meta-analysis
A Novel Variant in CWF19L1 Gene in a Family with Late-Onset Autosomal Recessive Cerebellar Ataxia 17.
Algahtani H et al.·Neurol Res
2021
Heterozygous pathogenic variants in CWF19L1 in a Chinese family with spinocerebellar ataxia, autosomal recessive 17.
Ruan M et al.·J Clin Lab Anal
2022Case report
Novel CWF19L1 mutations in patients with spinocerebellar ataxia, autosomal recessive 17.
Phulpagar P et al.·J Hum Genet
2023Cohort
Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.
Evers C et al.·Am J Med Genet A
2016Case report
Clinical Relevance of Noncoding Adenosine-to-Inosine RNA Editing in Multiple Human Cancers.
Gu T et al.·JCO Clin Cancer Inform
2019
Homozygous splice mutation in CWF19L1 in a Turkish family with recessive ataxia syndrome.
Burns R et al.·Neurology
2014Case report
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools