ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.1013C>G (p.Ser338Ter)

dbSNP: rs1060502305
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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 RCV000456892 SCV000549129 pathogenic Danon disease 2020-02-12 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 creates a premature translational stop signal at codon 338 (p.Ser338*) of the LAMP2 gene. It is expected to result in an absent or disrupted protein product.

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