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The maximum credible allele frequency was set to be 0.0001. The potential impact of rare variants was evaluated using variety in silico prediction tools, including PolyPhen-2, SIFT, MutationTaster2025, FATHMM-XF, REVEL, CADD, and DynaMut2.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Two extremely rare NR1D2 missense variants were identified in three MODY-X patients: p.I148V (rs148928938) in exon 4 and p.R286W (rs768518229) in exon 5, with allele frequencies of 74 per million and 3 per million in gnomAD, respectively. In silico predictions indicated a more consistent deleterious profile for p.I148V, whereas p.R286W demonstrated heterogeneous and predominantly benign or borderline predictions. The clinical manifestations exhibited by the carriers were found to be variable, which is consistent with the metabolic heterogeneity that is characteristic of MODY.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The findings suggest that these variants may function as metabolic modifiers contributing to phenotypic variability in MODY-X. Prospective family-based studies and functional assays are needed to clarify their biological significance.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s40618-026-02821-7","type":"journal-article","created":{"date-parts":[[2026,2,6]],"date-time":"2026-02-06T06:43:40Z","timestamp":1770360220000},"page":"1421-1431","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Evaluation of rare NR1D2 variants in MODY-X: clinical, genetic, and in silico insights"],"prefix":"10.1007","volume":"49","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7520-070X","authenticated-orcid":false,"given":"Cagatay","family":"Aydogan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2728-7323","authenticated-orcid":false,"given":"Deniz","family":"Kanca-Demirci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1187-944X","authenticated-orcid":false,"given":"Nurdan","family":"Gul","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6806-9678","authenticated-orcid":false,"given":"Sukran","family":"Poyrazoglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7925-6364","authenticated-orcid":false,"given":"Bengu","family":"Tokat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5259-7326","authenticated-orcid":false,"given":"Ummu","family":"Mutlu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2439-9269","authenticated-orcid":false,"given":"Oguz","family":"Ozturk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8837-6664","authenticated-orcid":false,"given":"Hulya","family":"Yilmaz-Aydogan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8613-1797","authenticated-orcid":false,"given":"Ilhan","family":"Satman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,2,6]]},"reference":[{"issue":"1","key":"2821_CR1","doi-asserted-by":"publisher","first-page":"S27","DOI":"10.2337\/dc25-S002","volume":"48","author":"American Diabetes Association Professional Practice Committee","year":"2025","unstructured":"American Diabetes Association Professional Practice Committee (2025) 2. 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