ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.1057C>T (p.Gln353Ter)

dbSNP: rs2147278858
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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 RCV001783554 SCV002243245 pathogenic Danon disease 2021-06-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the LAMP2 protein. Other variant(s) that disrupt this region (p.Gln359*) have been determined to be pathogenic (PMID: 16144992, 28874292). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has been observed in individual(s) with Danon disease (PMID: 27816333). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln353*) in the LAMP2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 58 amino acid(s) of the LAMP2 protein.

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