ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2654-8T>G

gnomAD frequency: 0.00001  dbSNP: rs765263670
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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 RCV001075566 SCV001241193 uncertain significance Retinal dystrophy 2019-01-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001862620 SCV002130292 likely pathogenic not provided 2023-09-21 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with clinical features of Stargardt disease (PMID: 25082829, 32307445). This variant is present in population databases (rs765263670, gnomAD 0.01%). This sequence change falls in intron 17 of the ABCA4 gene. It does not directly change the encoded amino acid sequence of the ABCA4 protein. 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. Studies have shown that this variant is associated with altered splicing resulting in multiple RNA products (PMID: 32307445). ClinVar contains an entry for this variant (Variation ID: 867061).
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV001075566 SCV005069162 uncertain significance Retinal dystrophy 2015-01-01 criteria provided, single submitter clinical testing

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