CWF19L1

Chr 10AR

CWF19 like cell cycle control factor 1

Also known as: C19L1, SCAR17, hDrn1

NCBI Gene: 55280 ENSG00000095485 UniProt: Q69YN2 OMIM: 616120

The protein is a member of the CWF19 family involved in pre-mRNA splicing. Mutations cause autosomal recessive spinocerebellar ataxia type 17, characterized by cerebellar ataxia and mild cognitive disability. This gene shows extreme intolerance to loss-of-function variants (pLI ~1.0), indicating it is highly constrained and essential for normal function.

OMIM ResearchSummary from RefSeq, OMIM

This gene encodes a member of the CWF19 protein family. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia-17 and mild cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

OMIM ResearchGenerating clinical summary…

ARLOEUF 1.151 OMIM phenotype

Clinical Summary— CWF19L1

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Gene-Disease Validity (ClinGen)

autosomal recessive cerebellar ataxia · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

31 unique Pathogenic / Likely Pathogenic· 81 VUS of 162 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

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?

1.10Z-score

OE missense 0.82 (0.73–0.91)

232 obs / 283.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.83 (0.61–1.15)

0≤0.351.4

Missense OE?0.82 (0.73–0.91)

0≤0.61.4

Synonymous OE?0.87

0≤1.21.6

LoF obs/exp: 26 / 31.4Missense obs/exp: 232 / 283.9Syn Z: 1.01

ClinVar Variant Classifications

162 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic13

Likely Pathogenic18

VUS81

Likely Benign20

Benign10

Conflicting2

Pathogenic

Likely Pathogenic

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	12	1	0	0	13
Likely Pathogenic	15	3	0	0	18
VUS	1	78	2	0	81
Likely Benign	0	7	4	9	20
Benign	0	5	2	3	10
Conflicting	—				2
Total	28	94	8	12	144

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

View in ClinVar →

14 pathogenic / likely-pathogenic (of 21) ClinVar copy-number / structural variants overlap CWF19L1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →