ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.3292C>T (p.Arg1098Cys) (rs756840095)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000408518 SCV000281864 likely pathogenic Stargardt disease 1 2016-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000478178 SCV000564528 pathogenic not provided 2019-08-30 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 10958763, 11702214, 17982420, 28559085, 29925512, 19265867, 30060493, 29178665, 19074458, 31589614, 32619608)
Blueprint Genetics RCV001074682 SCV001240275 pathogenic Retinal dystrophy 2019-03-21 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001196593 SCV001367201 likely pathogenic Age-related macular degeneration 2 2020-02-04 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM1,PM2,PP3.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000478178 SCV001501909 pathogenic not provided 2020-07-01 criteria provided, single submitter clinical testing
Invitae RCV000478178 SCV001585366 pathogenic not provided 2020-07-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 1098 of the ABCA4 protein (p.Arg1098Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs756840095, ExAC 0.01%). This variant has been observed in individual(s) with Stargardt disease or cone rod distrophy (PMID: 19074458, 23096905, 28559085, 29925512). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 236100). 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.

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.