ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.190_191del (p.Val64fs)

dbSNP: rs1569371330
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000786769 SCV002236776 pathogenic Danon disease 2022-02-09 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 635277). This premature translational stop signal has been observed in individual(s) with Danon disease (PMID: 23955649). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val64Asnfs*11) 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). For these reasons, this variant has been classified as Pathogenic.
Cytoplasmic Inheritance Laboratory, Institute of Genetics and Cytology RCV000786769 SCV000924630 likely pathogenic Danon disease 2019-06-02 no assertion criteria provided clinical testing The variant is absent in publicly available population databases (gnomAD, 1000Genomes). It was found in a woman with dilatation cardiomyopathy. NM_002294.2:c.190_191delAC creates a premature stop codon at position 11 of the new reading frame - p.V64NfsX11. It means the truncated protein lacks the transmembrane domain, cytosolic tail and most part of the luminal domain. Such rearrangement will lead to loss of function of LAMP2.

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