ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.1093+2440_1093+2441del

dbSNP: rs2147277541
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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 RCV001940156 SCV002179590 uncertain significance Danon disease 2022-03-08 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. Studies have shown that this variant alters LAMP2 gene expression (PMID: 10972294). This variant is also known as c.1097_1098delAA (p.Gln366Argfs*6). This variant has been observed in individual(s) with Danon disease (PMID: 10972294). This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 8 of the LAMP2 gene. It does not directly change the encoded amino acid sequence of the LAMP2 protein. It affects a nucleotide within the consensus splice site.
OMIM RCV001940156 SCV000030880 pathogenic Danon disease 2000-08-24 no assertion criteria provided literature only

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