ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4352+1G>A

gnomAD frequency: 0.00001  dbSNP: rs200967229
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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 RCV000408571 SCV000281888 pathogenic Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Institute of Medical Molecular Genetics, University of Zurich RCV000408571 SCV001548149 likely pathogenic Severe early-childhood-onset retinal dystrophy 2021-01-30 criteria provided, single submitter clinical testing
Invitae RCV001854784 SCV002143669 pathogenic not provided 2023-09-03 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 29 of the ABCA4 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely results in a shortened protein product. This variant is present in population databases (rs200967229, gnomAD 0.007%). Disruption of this splice site has been observed in individuals with clinical features of Stargardt disease (PMID: 20029649, 28118664, 29854428). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 236113). Studies have shown that disruption of this splice site results in skipping of exon 29, but is expected to preserve the integrity of the reading-frame (PMID: 28118664). For these reasons, this variant has been classified as Pathogenic.
Dept Of Ophthalmology, Nagoya University RCV003888652 SCV004707401 likely pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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