ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4253+5G>A

gnomAD frequency: 0.00001  dbSNP: rs61750138
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV000408462 SCV000281883 pathogenic Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000504972 SCV001239332 pathogenic Retinal dystrophy 2018-01-06 criteria provided, single submitter clinical testing
Invitae RCV001854783 SCV002241844 pathogenic not provided 2023-11-25 criteria provided, single submitter clinical testing This sequence change falls in intron 28 of the ABCA4 gene. It does not directly change the encoded amino acid sequence of the ABCA4 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has been observed in individual(s) with ABCA4-related conditions (PMID: 10958763, 11385708, 22328824, 23755871, 28041643, 28118664, 35119454). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as IVS28+5G>A. ClinVar contains an entry for this variant (Variation ID: 236110). Studies have shown that this variant does not significantly alter or has an unclear effect on ABCA4 gene expression (PMID: 10958763, 29162642). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). 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, University of Leipzig Medical Center RCV000408462 SCV002505621 pathogenic Severe early-childhood-onset retinal dystrophy 2022-04-14 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous with NM_000350.3:c.5714+5G>A Criteria applied: PS3, PM3_STR, PM2_SUP
Rui Chen Lab, Baylor College of Medicine RCV000515660 SCV000579417 pathogenic Stargardt disease 2017-05-09 no assertion criteria provided research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504972 SCV000598971 likely pathogenic Retinal dystrophy 2015-01-01 no assertion criteria provided research

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