ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.183T>A (p.Tyr61Ter)

dbSNP: rs397516736
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001387423 SCV001588039 pathogenic Danon disease 2020-08-27 criteria provided, single submitter clinical testing 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 conditions. ClinVar contains an entry for this variant (Variation ID: 44418). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr61*) in the LAMP2 gene. It is expected to result in an absent or disrupted protein product.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000037407 SCV000061064 likely pathogenic Hypertrophic cardiomyopathy 2008-04-10 no assertion criteria provided clinical testing

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