ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.929-197_1070del

dbSNP: rs2147278850
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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 RCV001388566 SCV001589601 pathogenic Danon disease 2016-02-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, truncating variants in LAMP2 are known to be pathogenic (PMID: 21415759). This sequence change affects an acceptor splice site in intron 7 of the LAMP2 gene and also removes 142 nucleotides from exon 8. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product.

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