Submissions for variant NM_002294.3(LAMP2):c.928+3A>G

dbSNP: rs2147279469

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001917153	SCV002156672	uncertain significance	Danon disease	2022-08-09	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 may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1380172). This variant has not been reported in the literature in individuals affected with LAMP2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 7 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.
Medical Genetics and Mitochondrial Research group, Latvian Biomedical Research and Study center	RCV001917153	SCV002318365	pathogenic	Danon disease	2022-03-23	criteria provided, single submitter	research	Absent from reference population databases. Causes skipping of exon seven. Patients exhibit phenotype consistent with Danon disease. Computational prediction of pathogenicity.