ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1344del (p.Met448fs)

dbSNP: rs61748554
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000085390 SCV002213171 pathogenic not provided 2024-02-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met448Ilefs*3) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Stargardt disease (PMID: 10206579, 31614660). ClinVar contains an entry for this variant (Variation ID: 99047). 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.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV002509208 SCV002818574 pathogenic Severe early-childhood-onset retinal dystrophy; Stargardt disease 2023-01-11 criteria provided, single submitter clinical testing
Retina International RCV000085390 SCV000117527 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.