ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.428C>T (p.Pro143Leu) (rs62646860)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000085626 SCV000701764 likely pathogenic not provided 2017-09-13 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001195926 SCV001366350 likely pathogenic Age-related macular degeneration 2 2019-09-05 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM1,PM2,PP3,PP5.
Invitae RCV000085626 SCV001590828 pathogenic not provided 2020-10-18 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 143 of the ABCA4 protein (p.Pro143Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with ABCA4-related conditions (PMID: 25412400, 29854428,29178665, 14517951). ClinVar contains an entry for this variant (Variation ID: 99273). 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.
Retina International RCV000085626 SCV000117765 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.