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To verify the impact of the splice-site variant, a minigene splicing assay was applied. The AlphaFold2 analysis was used to analyse the mutant protein structure. A splice-site variant (NM_013995.2:c.864+5G&amp;gt;A) located at intron 6 of the LAMP2 gene was identified as a potential pathogenic variant. The minigene splicing revealed that this variant causes exon 6 to be skipped, resulting in a truncated protein. The AlphaFold2 analysis showed that the mutation caused a protein twist direction change, leading to conformational abnormality.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>A novel splice-site variant (NM_013995.2:c.864+5G&amp;gt;A) located at intron 6 of the LAMP2 gene was identified. This discovery may enlarge the LAMP2 variant spectrum, promote accurate genetic counselling, and contribute to the diagnosis of Danon disease.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ehf2.14417","type":"journal-article","created":{"date-parts":[[2023,6,7]],"date-time":"2023-06-07T04:07:28Z","timestamp":1686110848000},"page":"2479-2486","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Identification of a Novel Splicing-Altering\n                    <i>LAMP2<\/i>\n                    Variant in a Chinese Family with Danon Disease"],"prefix":"10.1093","volume":"10","author":[{"given":"Di","family":"Fu","sequence":"first","affiliation":[{"name":"Department of Cardiovascular Medicine, The Second Xiangya Hospital, Central South University , 410011, Hunan, Changsha, No. 139 Middle Renmin Road 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