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The CAG-CCG LOI variant is not detectable by current diagnostic assays, leading to underestimation of CAG repeat length, misdiagnosis, and inaccurate prediction of risk of symptom onset in the reduced penetrance range. In clinical trials, unidentified CAG-CCG LOI variants may affect interpretation of results, particularly for small trials. Accurate ascertainment and reporting of the CAG-CCG LOI genotype therefore has important implications for HD diagnosis, genetic counselling, and clinical trial design.\n                  <\/jats:p>","DOI":"10.1177\/18796397261443135","type":"journal-article","created":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T19:30:16Z","timestamp":1779910216000},"page":"516-523","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical implications of loss of interruption variants for diagnosis, genetic counselling, and clinical trials in Huntington's disease"],"prefix":"10.1177","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2479-2463","authenticated-orcid":false,"given":"Hailey","family":"Findlay Black","sequence":"first","affiliation":[{"name":"Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8773-4634","authenticated-orcid":false,"given":"Jessica","family":"Levesley","sequence":"additional","affiliation":[{"name":"Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8170-4805","authenticated-orcid":false,"given":"Chris","family":"Kay","sequence":"additional","affiliation":[{"name":"Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Bortnick","sequence":"additional","affiliation":[{"name":"Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-7514-4684","authenticated-orcid":false,"given":"Kyla","family":"Javier","sequence":"additional","affiliation":[{"name":"Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5159-1419","authenticated-orcid":false,"given":"Michael R","family":"Hayden","sequence":"additional","affiliation":[{"name":"Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,5,27]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0893-398"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1400"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.30992"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2015.07.003"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2019.06.036"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-025-02191-5"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2022.03.004"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2024.101239"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebiom.2019.09.020"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-0917-z"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41593-022-01033-5"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gimo.2024.101882"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.04.007"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.146"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-0893-3"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(20)30343-4"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.29650"},{"key":"e_1_3_3_19_2","doi-asserted-by":"publisher","DOI":"10.1177\/18796397251391953"},{"key":"e_1_3_3_20_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00109-023-02329-0"},{"key":"e_1_3_3_21_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41591-024-03190-5"},{"key":"e_1_3_3_22_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41591-024-03424-6"},{"key":"e_1_3_3_23_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000214404"},{"key":"e_1_3_3_24_2","first-page":"593","article-title":"Anticipation and instability of IT-15 (CAG) n repeats in parent-offspring pairs with Huntington disease","volume":"57","author":"Ranen NG","year":"1995","unstructured":"Ranen NG, Stine OC, Abbott MH, et al. 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