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