SPATA17 and Male Infertility

The association between SPATA17 and male infertility (MONDO_0005372) is currently supported by candidate gene evidence from a next‑generation sequencing panel study applied to a Turkish cohort of infertile males (PMID:40070865). In this study, 132 genes were interrogated in 85 patients, and although a total of 58 clinical variants were detected across 28 genes, no specific pathogenic variant attributable to SPATA17 was reported, nor was any segregation analysis provided that could strengthen the genetic claim. The limited genetic data thus leave the variant spectrum for SPATA17 largely undefined, which constrains the robustness of a gene‐disease association.

No dedicated functional assays or animal/cellular models have yet been presented to directly assess the mechanism of pathogenicity for SPATA17 in male infertility. While its inclusion in an infertility diagnostic panel implies potential clinical relevance, the lack of specific variant details and functional validation leads to a ClinGen categorization of limited evidence. Further studies incorporating detailed variant analysis, segregation data, and functional experiments are essential to advance the clinical utility of SPATA17 in the diagnosis of male infertility. Key take‑home sentence: SPATA17 is a promising candidate gene for male infertility, but its clinical application awaits further robust genetic and functional validation.

References

• Balkan journal of medical genetics : BJMG • 2024 • Next-Generation Sequencing Infertility Panel in Turkey: First Results PMID:40070865

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