ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.67-2A>G

dbSNP: rs398123339
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723703 SCV000110531 pathogenic not provided 2013-09-19 criteria provided, single submitter clinical testing
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV000078672 SCV000281793 pathogenic Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074239 SCV001239812 pathogenic Retinal dystrophy 2019-04-12 criteria provided, single submitter clinical testing
Invitae RCV000723703 SCV001380886 pathogenic not provided 2023-01-30 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 92871). Disruption of this splice site has been observed in individual(s) with Stargardt disease (PMID: 28559085; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs398123339, gnomAD 0.0009%). This sequence change affects an acceptor splice site in intron 1 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 RCV000723703 SCV001905563 likely pathogenic not provided 2021-09-15 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000078672 SCV002072544 pathogenic Severe early-childhood-onset retinal dystrophy 2022-06-23 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous with NM_000350.3:c.5603A>T._x000D_ Criteria applied: PVS1, PM3, PM2_SUP
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000415227 SCV000492545 pathogenic Visual impairment; Central scotoma; Macular degeneration; Retinal atrophy 2016-06-12 no assertion criteria provided clinical testing

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