ZSWIM7

Chr 17AR

zinc finger SWIM-type containing 7

Also known as: ODG10, SPGF71, SWS1

NCBI Gene: 125150ENSG00000214941UniProt: Q19AV6

Predicted to enable zinc ion binding activity. Involved in double-strand break repair via homologous recombination and protein stabilization. Part of Shu complex. Implicated in ovarian dysgenesis 10 and spermatogenic failure 71. [provided by Alliance of Genome Resources, Jul 2025]

Primary Disease Associations & Inheritance

?Ovarian dysgenesis 10MIM #619834
AR
Spermatogenic failure 71MIM #619831
AR
0
ClinVar variants
0
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— ZSWIM7
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (1)

clinvar: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

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.
1.21LOEUF
pLI 0.001
Z-score 1.13
OE 0.61 (0.33–1.21)
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.
0.33Z-score
OE missense 0.89 (0.73–1.09)
67 obs / 75.1 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.0.61 (0.33–1.21)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.89 (0.73–1.09)
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.0.84
0≤1.21.6
LoF obs/exp: 6 / 9.8Missense obs/exp: 67 / 75.1Syn Z: 0.67

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ZSWIM7 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

?Ovarian dysgenesis 10

MIM #619834

Molecular basis of disorder known

Autosomal recessive

Spermatogenic failure 71

MIM #619831

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
A novel homozygous variant in homologous recombination repair gene ZSWIM7 causes azoospermia in males and primary ovarian insufficiency in females.
Hussain S et al.·Eur J Med Genet
2022Review
Pathogenic Variants in ZSWIM7 Cause Primary Ovarian Insufficiency.
Yatsenko SA et al.·J Clin Endocrinol Metab
2022
SWS1-complex in premature ovarian insufficiency: SWSAP1 as a new POI gene.
Lokchine A et al.·Hum Reprod
2025
ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency.
McGlacken-Byrne SM et al.·J Clin Endocrinol Metab
2022
A recurrent ZSWIM7 mutation causes male infertility resulting from decreased meiotic recombination.
Li Y et al.·Hum Reprod
2021
A genomics approach to male infertility.
Alhathal N et al.·Genet Med
2020
A Tiered Approach to Exome Sequencing Analysis in Early-Onset Primary Ovarian Insufficiency.
McGlacken-Byrne SM et al.·J Clin Endocrinol Metab
2025
Compound Heterozygous Variants in ZSWIM7 Gene Linked to Infertility and Its Role in Gonadal Development.
Christofolini DM et al.·Am J Med Genet A
2025Case report
Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis.
Spier I et al.·Fam Cancer
2016Cohort
Improving diagnostic precision in primary ovarian insufficiency using comprehensive genetic and autoantibody testing.
Vogt EC et al.·Hum Reprod
2024
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.

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External Resources

Links to major genomics databases and tools