ClinVar Miner

Submissions for variant NM_013995.2(LAMP2):c.-26_-15dup (rs1556124241)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000157988 SCV000207923 uncertain significance Danon disease; Cardiomyopathy 2014-10-10 criteria provided, single submitter clinical testing c.-26_-15dupGCCGTCGCCGCC in exon 1 of the LAMP2 gene (NM_001122606.1). The c.-26_-15dupGCCGTCGCCGCC variant in the LAMP2 gene has not been reported as a disease-causing mutation or as a benign polymorphism. Several in silico splice prediction algorithms predict this variant does not affect splicing. This variant is located in the 5' untranslated region (UTR) of the LAMP2 gene and a small deletion in this region has been reported previously both as a benign polymorphism and in association with Danon disease. c.-26_-15dupGCCGTCGCCGCC variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in CARDIOMYOPATHY,HCM panel(s).

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