ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.52C>T (p.Arg18Trp) (rs121909205)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000008356 SCV000281792 likely pathogenic Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000085719 SCV000701766 pathogenic not provided 2016-09-28 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075717 SCV001241345 pathogenic Retinal dystrophy 2019-05-09 criteria provided, single submitter clinical testing
Invitae RCV000085719 SCV001402755 pathogenic not provided 2020-10-08 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 18 of the ABCA4 protein (p.Arg18Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs121909205, ExAC 0.009%). This variant has been observed in several individuals affected with retinal disease and has been observed to segregate with Stargardt disease in a family (PMID: 29925512, 23755871, 23096905, 29854428). ClinVar contains an entry for this variant (Variation ID: 7899). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000085719 SCV001447330 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear RCV000008356 SCV001573651 pathogenic Stargardt disease 1 2021-04-08 criteria provided, single submitter research The ABCA4 c.52C>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, PP3, PM1, PP1, PM3-S. Based on this evidence we have classified this variant as Pathogenic.
OMIM RCV000008356 SCV000028564 pathogenic Stargardt disease 1 1998-02-15 no assertion criteria provided literature only
Retina International RCV000085719 SCV000117859 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.