ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2160+1G>T

gnomAD frequency: 0.00001  dbSNP: rs61749427
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV000408563 SCV000281842 pathogenic Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075206 SCV001240820 pathogenic Retinal dystrophy 2018-11-15 criteria provided, single submitter clinical testing
Institute of Medical Molecular Genetics, University of Zurich RCV001352989 SCV001548080 likely pathogenic Retinitis pigmentosa 19 2021-01-30 criteria provided, single submitter clinical testing
Invitae RCV001854780 SCV002140798 pathogenic not provided 2022-08-22 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 236090). Disruption of this splice site has been observed in individuals with ABCA4-related conditions (PMID: 22395892, 27353947, 28947085, 29925512). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 14 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).

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