ClinVar Miner

Submissions for variant NM_002294.2(LAMP2):c.1211A>T (p.His404Leu) (rs727504957)

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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 RCV000156362 SCV000206080 uncertain significance not specified 2014-11-10 criteria provided, single submitter clinical testing The p.His404Leu variant in LAMP2 has been identified by our laboratory in 1 adul t with non-ischemic cardiomyopathy, hypokinesis, and T-wave abnormalities; howev er, this individual also carried a pathogenic variant in another gene. It was ab sent from large population studies. Computational prediction tools and conservat ion analysis do not provide strong support for or against an impact the protein. In summary, the clinical significance of the p.His404Leu variant is uncertain.

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