ClinVar Miner

Submissions for variant NM_001122606.1(LAMP2):c.(?_1094)_(1236_?)del

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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 RCV000219356 SCV000271899 uncertain significance not specified 2015-03-04 criteria provided, single submitter clinical testing The c.(?_1094)_(1233_?)del variant in LAMP2 has not been previously reported in individuals with cardiomyopathy. This variant results in a deletion encompassing the last exon (isoform C). While large deletions encompassing one or more exon s have been identified in multiple cases of Danon disease (Yang 2010, Boucek 201 1) and loss-of-function is an established disease mechanism, this deletion does not occur in the predominant isoform for Danon disease (B) and therefore its ove rall impact is unclear. In summary, the clinical significance of the c.(?_1094)_ (1233_?)del variant is uncertain.

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