ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter) (rs61749423)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000408512 SCV000281841 pathogenic Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000085458 SCV000490370 pathogenic not provided 2018-09-28 criteria provided, single submitter clinical testing The R681X nonsense variant in the ABCA4 gene has previously been reported in association with Stargardt disease and cone-rod dystrophy (Maugeri et al., 1999; Jaakson et al., 2003; Cideciyan et al., 2009) and is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. We interpret this variant as pathogenic.
Blueprint Genetics RCV001073628 SCV001239179 pathogenic Retinal dystrophy 2019-07-20 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000085458 SCV001245781 pathogenic not provided 2017-08-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001195987 SCV001366414 pathogenic Age-related macular degeneration 2 2019-08-21 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP3,PP5.
Invitae RCV000085458 SCV001393043 pathogenic not provided 2019-11-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg681*) in the ABCA4 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs61749423, ExAC 0.006%). This variant has been observed in many individuals and a family affected with retinal disease (PMID: 25544989, 28041643, 28559085, 10090887). ClinVar contains an entry for this variant (Variation ID: 99114). Loss-of-function variants in ABCA4 are known to be pathogenic (PMID: 10958761, 24938718, 25312043, 26780318). For these reasons, this variant has been classified as Pathogenic.
Retina International RCV000085458 SCV000117595 not provided not provided no assertion provided not provided
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals RCV000210310 SCV000259074 likely pathogenic Bull's eye maculopathy 2015-01-19 no assertion criteria provided clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504983 SCV000598948 pathogenic Leber congenital amaurosis 2015-01-01 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.