ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5898+5G>A

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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 RCV003019101 SCV003310467 likely pathogenic not provided 2022-08-19 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with Stargardt disease (PMID: 32307445). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant is associated with altered splicing resulting in multiple RNA products (PMID: 32307445). 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. This sequence change falls in intron 42 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.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004817171 SCV005070467 likely pathogenic Retinal dystrophy 2014-01-01 criteria provided, single submitter clinical testing

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