ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.137G>A (p.Trp46Ter)

dbSNP: rs1569371591
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000700468 SCV000829225 pathogenic Danon disease 2018-05-09 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp46*) in the LAMP2 gene. It is expected to result in an absent or disrupted protein product. This variant has been observed in an individual affected with Danon disease (PMID: 23504560). A different variant (c.138G>A) giving rise to the same protein effect observed here (p.Trp46*) has been reported in an individual affected with Danon disease (PMID: 15889279). Loss-of-function variants in LAMP2 are known to be pathogenic (PMID: 21415759). For these reasons, this variant has been classified as Pathogenic.

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