ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu)

gnomAD frequency: 0.00009  dbSNP: rs61750145
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 12
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg RCV000408536 SCV000281890 likely pathogenic Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000085636 SCV000511897 pathogenic not provided 2020-12-17 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: 11328725, 21911583, 30093795, 23143460, 11527935, 17932850, 9973280, 18285826, 28118664, 25412400, 22247458, 28559085, 31129250, 31456290, 32845050, 32036094)
Mendelics RCV000408536 SCV001135340 pathogenic Severe early-childhood-onset retinal dystrophy 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000085636 SCV001205168 pathogenic not provided 2021-12-19 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1486 of the ABCA4 protein (p.Pro1486Leu). This variant is present in population databases (rs61750145, gnomAD 0.07%). This missense change has been observed in individual(s) with Stargardt disease (PMID: 18285826, 22247458, 23755871, 28559085, 30093795). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 99283). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ABCA4 protein function. For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001074852 SCV001240453 pathogenic Retinal dystrophy 2019-07-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000085636 SCV001248245 pathogenic not provided 2016-11-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001198562 SCV001369551 pathogenic Age related macular degeneration 2 2019-12-02 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PM2,PP3,PP2,PM3,PS1.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000085636 SCV001448014 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV000408536 SCV001521356 likely pathogenic Severe early-childhood-onset retinal dystrophy 2020-08-01 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Retina International RCV000085636 SCV000117775 not provided not provided no assertion provided not provided
Sharon lab,Hadassah-Hebrew University Medical Center RCV001002829 SCV001160846 pathogenic Stargardt disease 2019-06-23 no assertion criteria provided research
PerkinElmer Genomics RCV000085636 SCV002020993 likely pathogenic not provided 2020-01-16 no assertion criteria provided clinical testing

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.