ClinVar Miner

Submissions for variant NC_000023.10:g.(?_119565178)_(119603024_?)del

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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 RCV004578172 SCV005065644 pathogenic Danon disease 2023-07-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Isolated whole-gene deletions of LAMP2 have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 31729179). A gross deletion of the genomic region encompassing the full coding sequence of the LAMP2 gene has been identified. Loss-of-function variants in LAMP2 are known to be pathogenic (PMID: 21415759). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes.

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