ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs200967229
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
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 2021-11-30 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.