ClinVar Miner

Submissions for variant NM_013995.2(LAMP2):c.1106C>T (p.Ser369Leu) (rs765143363)

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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,Partners HealthCare Personalized 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.

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