ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.5463G>A (p.Thr1821=)

gnomAD frequency: 0.00001  dbSNP: rs367857935
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001037052 SCV001200447 uncertain significance not provided 2022-06-20 criteria provided, single submitter clinical testing This sequence change affects codon 1821 of the ABCA4 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ABCA4 protein. This variant is present in population databases (rs367857935, gnomAD 0.01%). This variant has been observed in individuals with clinical features of Stargardt disease (PMID: 28041643; Invitae). ClinVar contains an entry for this variant (Variation ID: 438102). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504940 SCV000598999 likely pathogenic Severe early-childhood-onset retinal dystrophy 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.