ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4352+5G>T

dbSNP: rs1660166597
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074670 SCV001240262 uncertain significance Retinal dystrophy 2019-03-04 criteria provided, single submitter clinical testing
GeneDx RCV001577735 SCV001805163 likely pathogenic not provided 2019-09-30 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Intronic +5 splice site variant predicted to result in an in-frame deletion of exon 29; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001577735 SCV005749044 uncertain significance not provided 2025-01-21 criteria provided, single submitter clinical testing This sequence change falls in intron 29 of the ABCA4 gene. It does not directly change the encoded amino acid sequence of the ABCA4 protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or altered protein product. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with ABCA4-related conditions (PMID: 33258285). ClinVar contains an entry for this variant (Variation ID: 866570). 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 29, and produces a non-functional protein and/or introduces a premature termination codon (PMID: 33258285). 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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