ClinVar Miner

Submissions for variant NM_013995.2(LAMP2):c.584_588dup (p.Val197fs) (rs730880492)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000157984 SCV000207919 pathogenic Danon disease; Cardiomyopathy 2014-05-08 criteria provided, single submitter clinical testing c.588_589insCAACA: p.Val197GlnfsX47 (V197QfsX47) in exon 5 of the LAMP2 gene (NM_002294.2). The normal sequence with the bases that are duplicated in braces is: ACTT{CAACA}GTGG. Although the c.588_589insCAACA mutation in the LAMP2 gene has not been reported to our knowledge, this mutation causes a shift in reading frame starting at codon Valine197, changing it to a Glutamine, and creating a premature stop codon at position 47 of the new reading frame, denoted p.Val197GlnfsX47. This mutation is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Other frameshift mutations in the LAMP2 gene have been reported in association with Danon disease. In summary, c.588_589insCAACA in the LAMP2 gene is interpreted as a disease-causing mutation. The variant is found in HCM panel(s).

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