ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter)

gnomAD frequency: 0.00001  dbSNP: rs62646861
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000408527 SCV000281807 pathogenic Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075709 SCV001241337 pathogenic Retinal dystrophy 2019-04-24 criteria provided, single submitter clinical testing
Invitae RCV000085653 SCV001419360 pathogenic not provided 2021-11-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg152*) 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). This variant is present in population databases (rs62646861, gnomAD 0.004%). This premature translational stop signal has been observed in individual(s) with Stargardt disease (PMID: 19074458, 23695285). ClinVar contains an entry for this variant (Variation ID: 99300). For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000085653 SCV001446681 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Institute of Medical Molecular Genetics, University of Zurich RCV000408527 SCV001548060 likely pathogenic Severe early-childhood-onset retinal dystrophy 2021-01-30 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV002272126 SCV002556378 pathogenic Cone-rod dystrophy 3 2021-12-29 criteria provided, single submitter clinical testing
Retina International RCV000085653 SCV000117793 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.