ReviewJournal of assisted reproduction and genetics2026
Pathogenicity assessment of genetic variants in reproductive disorders.
Review in Journal of assisted reproduction and genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
0 citing papers in PubMed.
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Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThis review aims to summarize the available methods and current challenges in assessing the pathogenicity of genetic variants associated with reproductive disorders, with a particular focus on variants affecting oocyte maturation and early embryonic development. It also discusses how functional studied, computational approaches, and clinical evidence can be integrated with the ACMG/AMP framework to support more accurate variant interpretation and clinical decision-making.
methodsIn this review, we included the ACMG/AMP guidelines, studies on genes related to oocyte maturation and early embryonic development, and research on ACMG/AMP-based pathogenicity assessment tools. We searched PubMed, Embase, and Web of Science for literature published up from January 2000 to June 2026. We excluded pre-2000 publications (except foundational articles) and non-English papers. Results were reported descriptively.
resultsThe application of the ACMG/AMP general framework to variants associated with oocyte maturation defects and early embryonic arrest faces challenges. In infertility-related variant interpretation, there are clinical practice barriers, difficulties in obtaining functional evidence, limitations of general population databases, and high false-positive rates of in silico prediction tools that collectively result in pathogenic variants being classified as variants of uncertain significance (VUS). Corresponding adaptation strategies include prioritizing reproduction-specific databases (IMIGC, FeRGI), introducing gene-/domain-specific weighting, employing automated ACMG-based classification tools (Franklin, VarSome, InterVar) with manual review, and adopting organoid technology for high-level functional evidence.
conclusionAccurate interpretation of genetic variants associated with reproductive disorder requires integrating clinical evidence, functional study together with ACMG/AMP general framework. Gene-specific standards, supported by reproductive databases and calibrated evidence rules, may improve molecular diagnosis and personalized assisted reproductive technology (ART) strategy. A ClinGen Variant Curation Expert Panel (VCEP) focusing on oocyte and embryonic developmental deficiencies may also be required.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.