ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.788del (p.Gly263fs)

dbSNP: rs1060502303
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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 RCV000477190 SCV000549126 pathogenic Danon disease 2016-10-03 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, loss-of-function variants in LAMP2 are known to be pathogenic (PMID: 21415759). This sequence change deletes 1 nucleotide from exon 6 of the LAMP2 mRNA (c.788delG), causing a frameshift at codon 263. This creates a premature translational stop signal (p.Gly263Alafs*20) and is expected to result in an absent or disrupted protein product.

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