ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.205_218del (p.His69fs)

dbSNP: rs1602540152
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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 RCV000816924 SCV000957453 pathogenic Danon disease 2018-10-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His69Ilefs*2) in the LAMP2 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in LAMP2 are known to be pathogenic (PMID: 21415759). This variant has not been reported in the literature in individuals with LAMP2-related disease. This variant is not present in population databases (ExAC no frequency).

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