ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1714C>T (p.Arg572Ter)

dbSNP: rs1557787756
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
GeneDx RCV000760305 SCV000890156 pathogenic not provided 2018-07-03 criteria provided, single submitter clinical testing The R572X variant in the ABCA4 gene has been reported previously in Stargardt disease and cone-rod dystrophy, in affected individuals who were compound heterozygous for the R572X variant and another ABCA4 variant (Stenirri et al., 2008; Thiadens et al., 2012; Lin et al., 2016). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R572X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R572X as a pathogenic variant.
Invitae RCV000760305 SCV001230234 pathogenic not provided 2023-05-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 620085). This premature translational stop signal has been observed in individuals with ABCA4-related conditions (PMID: 22264887, 27739528). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg572*) in the ABCA4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCA4 are known to be pathogenic (PMID: 10958761, 24938718, 25312043, 26780318).
CeGaT Center for Human Genetics Tuebingen RCV000760305 SCV001245789 pathogenic not provided 2019-04-01 criteria provided, single submitter clinical testing
Sharon lab, Hadassah-Hebrew University Medical Center RCV001002843 SCV001160864 pathogenic maculopathy 2019-06-23 no assertion criteria provided research

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.