ClinVar Miner

Submissions for variant NM_002294.2(LAMP2):c.(?_398)-60_(741_?)+68del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000214681 SCV000271234 likely pathogenic Danon disease; Hypertrophic cardiomyopathy 2015-11-19 criteria provided, single submitter clinical testing The c.(?_398-60)_(741+68_?)del variant in LAMP2 has not been previously reported in individuals with cardiomyopathy or Danon disease. This variant results in a deletion encompassing exons 4 and 5, which is predicted to lead to a truncated o r absent protein. Large deletions encompassing one or more exons have been ident ified in multiple cases of Danon disease (Yang 2010, Boucek 2011) and loss-of-fu nction is an established disease mechanism. In summary, although additional stud ies are required to fully establish its clinical significance, the c.(?_398-60)_ (741+68_?)del variant is likely pathogenic.

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