ZSWIM7
Chr 17ARzinc finger SWIM-type containing 7
Also known as: ODG10, SPGF71, SWS1
ZSWIM7 encodes a zinc-binding protein required for homologous recombination repair of DNA double-strand breaks and meiotic progression. Biallelic mutations cause autosomal recessive ovarian dysgenesis and male spermatogenic failure, presenting as reproductive disorders affecting fertility. The gene shows tolerance to loss-of-function variants in the general population (pLI 0.0009), consistent with recessive inheritance where heterozygous carriers are typically unaffected.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in 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.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools