Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000599671 | SCV000712253 | uncertain significance | not specified | 2016-06-10 | criteria provided, single submitter | clinical testing | The p.Ser369Leu variant in LAMP2 has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/47977 European chromosomes, i ncluding one hemizygote, by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs765143363). Computational prediction tools and conse rvation analysis suggest that the p.Ser369Leu variant may not impact the protein . Although this information is not predictive enough to rule out pathogenicity m issense variants in this gene are typically not pathogenic. In summary, the clin ical significance of the p.Ser369Leu variant is uncertain. |