ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.962G>A (p.Trp321Ter)

dbSNP: rs1060502306
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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 RCV000465984 SCV000549133 pathogenic Danon disease 2016-04-16 criteria provided, single submitter clinical testing While this particular variant has not been reported in the literature, truncating variants in LAMP2 are known to be pathogenic (PMID: 10972294, 21415759). For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal at codon 321 (p.Trp321*) of the LAMP2 gene. It is expected to result in an absent or disrupted protein product.

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