ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.294G>A (p.Trp98Ter) (rs876657696)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000223450 SCV000271380 pathogenic Danon disease 2015-03-18 criteria provided, single submitter clinical testing The p.Trp98X variant in LAMP2 was absent from large population studies but has b een reported in 2 individuals with Danon disease and segregated with disease in 5 affected relatives from 1 family (Fanin 2006, Spinazzi 2008, Miani 2012). A di fferent DNA change resulting in the same protein change (c.293G>A, p.Trp98X) has also been identified by our laboratory in 1 individual with Danon disease. This nonsense variant leads to a premature termination codon at position 98 and has been shown to reduced LAMP2 mRNA levels, resulting in absent LAMP2 protein in a male patient (Fanin 2006). Loss of function of the LAMP2 gene is an established disease mechanism in individuals with Danon disease. In summary, this variant me ets our criteria to be classified as pathogenic for Danon disease in X-linked do minant manner (http://www.partners.org/personalizedmedicine/LMM) based upon its functional impact and segregation in affected individuals.
Blueprint Genetics RCV000788415 SCV000927515 pathogenic not provided 2018-01-17 criteria provided, single submitter clinical testing

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