ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1554+1G>A

dbSNP: rs61752393
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000085400 SCV004292539 likely pathogenic not provided 2023-03-02 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 99057). Disruption of this splice site has been observed in individual(s) with cone-rod dystrophy (PMID: 26103963). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 11 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). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Retina International RCV000085400 SCV000117537 not provided not provided no assertion provided not provided

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