ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.6005+1G>T

dbSNP: rs61748517
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
Blueprint Genetics RCV001075569 SCV001241196 likely pathogenic Retinal dystrophy 2019-01-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000085782 SCV002234739 pathogenic not provided 2023-12-18 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 43 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). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with Stargardt disease (PMID: 20696155, 29925512, 30093795). This variant is also known as IVS43+1G>T, c.5892+1G>T. ClinVar contains an entry for this variant (Variation ID: 99425). 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.
Retina International RCV000085782 SCV000117924 not provided not provided no assertion provided not provided

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.