ClinVar Miner

Submissions for variant NM_002294.3(LAMP2):c.864G>A (p.Val288=)

dbSNP: rs2147281364
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001377124 SCV001574364 likely pathogenic Danon disease 2022-07-12 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in skipping of exon 6, but is expected to preserve the integrity of the reading-frame (PMID: 24691104). ClinVar contains an entry for this variant (Variation ID: 1066188). This variant has been observed in individual(s) with Danon disease (PMID: 24691104). This sequence change affects codon 288 of the LAMP2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the LAMP2 protein. RNA analysis indicates that this variant induces altered splicing and likely results in a shortened protein product.

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