ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.571-1G>T

dbSNP: rs61748533
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000085754 SCV001247761 pathogenic not provided 2017-02-01 criteria provided, single submitter clinical testing
Invitae RCV000085754 SCV001398788 pathogenic not provided 2023-09-27 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 99400). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. Disruption of this splice site has been observed in individuals with Stargardt disease (PMID: 23341817, 28947085). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 5 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).
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000085754 SCV001447682 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Retina International RCV000085754 SCV000117895 not provided not provided no assertion provided not provided

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