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Germline variants in the Sterile alpha motif domain\u2010containing 9\u2010like (\n                    <jats:italic>SAMD9L)<\/jats:italic>\n                    gene are specifically associated with an increased risk for these malignancies. In this study, we functionally modelled two novel\n                    <jats:italic>SAMD9L<\/jats:italic>\n                    variants\u2014p.N697Y and p.K1294*\u2014alongside two previously reported variants (p.T233N and p.H880Q). We generated heterozygous knock\u2010in cellular models in the Human leukemia (HL\u201060 myeloid cell line) for each variant using homology\u2010directed repair\u2010based Clustered regularly interspaced short palindromic repeats and CRISPR\u2010associated protein 9\u00a0(CRISPR\/Cas9) gene editing. Functional assays, focused on proliferation and protein translation, confirmed that the p.T233N, p.N697Y and p.K1294* variants all caused a decreased rate of protein translation. These results provide functional evidence to fine\u2010tune the classification of these\n                    <jats:italic>SAMD9L<\/jats:italic>\n                    variants and significantly advance our understanding of the molecular mechanisms by which\n                    <jats:italic>SAMD9L<\/jats:italic>\n                    variants drive inherited myeloid neoplasms.\n                  <\/jats:p>","DOI":"10.1111\/bjh.70799","type":"journal-article","created":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T02:32:22Z","timestamp":1787970742000},"page":"1538-1548","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Functional assessment of inherited myeloid neoplasm\u2010associated\n                    <i>SAMD9L<\/i>\n                    germline variants via Monoallelic\n                    <scp>CRISPR<\/scp>\n                    modelling"],"prefix":"10.1111","volume":"209","author":[{"given":"Elena","family":"Vuelta","sequence":"first","affiliation":[{"name":"Hematology Research Group Instituto de Investigaci\u00f3n Sanitaria La Fe  Valencia Spain"},{"name":"Department of Biomedicine and Biotechnology Universidad de Alcal\u00e1, Alcal\u00e1 de Henares  Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4842-5986","authenticated-orcid":false,"given":"Alessandro","family":"Liquori","sequence":"additional","affiliation":[{"name":"Hematology Research Group Instituto de Investigaci\u00f3n Sanitaria La Fe  Valencia Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de C\u00e1ncer (CIBERONC)  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7985-592X","authenticated-orcid":false,"given":"Matias","family":"Mor\u00edn","sequence":"additional","affiliation":[{"name":"Department of Genetics Hospital Universitario Ram\u00f3n y Cajal (IRYCIS) and Biomedical Network Research Centre on Rare Diseases (CIBERER)  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5768-5317","authenticated-orcid":false,"given":"Lucia","family":"Soletto","sequence":"additional","affiliation":[{"name":"Department of Genetics Hospital Universitario Ram\u00f3n y Cajal (IRYCIS) and Biomedical Network Research Centre on Rare Diseases (CIBERER)  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-2869-5522","authenticated-orcid":false,"given":"Miguel \u00c1ngel","family":"Marugal","sequence":"additional","affiliation":[{"name":"Department of Hematology Hospital Universitario 12 de Octubre, Instituto de Investigaci\u00f3n Sanitaria Hospital 12 de Octubre (imas12)  Madrid Spain"},{"name":"H12O\u2010CNIO Haematological Malignancies Clinical Research Unit CNIO  Madrid 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