ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4539+2028C>T (rs869320785)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000408506 SCV000281895 uncertain significance Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001074348 SCV001239923 pathogenic Retinal dystrophy 2019-07-16 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear RCV000408506 SCV001573460 pathogenic Stargardt disease 1 2021-04-08 criteria provided, single submitter research The ABCA4 c.4539+2028C>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, PS3, PM3-S. Based on this evidence we have classified this variant as Pathogenic.
Invitae RCV001380975 SCV001579215 pathogenic not provided 2020-09-29 criteria provided, single submitter clinical testing This sequence change falls in intron 30 of the ABCA4 gene. It does not directly change the encoded amino acid sequence of the ABCA4 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed in individual(s) with Stargardt disease (PMID: 23918662). It has also been observed to segregate with disease in related individuals. In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 236116). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 29526278). 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.