ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.3191-2A>G

dbSNP: rs61752415
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000085556 SCV002241291 pathogenic not provided 2024-05-23 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 21 of the ABCA4 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ABCA4 are known to be pathogenic (PMID: 10958761, 24938718, 25312043, 26780318). This variant is present in population databases (rs61752415, gnomAD 0.0009%). Disruption of this splice site has been observed in individual(s) with generalized retinal dystrophy and/or Stargardt disease (PMID: 22229821, 28559085). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 99205). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815101 SCV005069683 pathogenic Retinal dystrophy 2019-01-01 criteria provided, single submitter clinical testing
Retina International RCV000085556 SCV000117693 not provided not provided no assertion provided not provided

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