ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.571-3C>A

gnomAD frequency: 0.00002  dbSNP: rs754918602
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001047264 SCV001211206 uncertain significance not provided 2021-10-20 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the ABCA4 gene. It does not directly change the encoded amino acid sequence of the ABCA4 protein. It affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs754918602, ExAC 0.006%). This variant has not been reported in the literature in individuals affected with ABCA4-related conditions. 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. 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.

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