ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.73_74delinsTA (p.Arg25Ter)

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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 RCV003005747 SCV003301060 pathogenic Danon disease 2022-04-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg25*) in the LAMP2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LAMP2 are known to be pathogenic (PMID: 21415759). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with LAMP2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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