Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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. |