ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.3377T>C (p.Leu1126Pro)

dbSNP: rs1047376
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
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV000408515 SCV000281867 likely pathogenic Severe early-childhood-onset retinal dystrophy 2016-01-01 criteria provided, single submitter clinical testing
Invitae RCV001854781 SCV002133548 pathogenic not provided 2023-09-21 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1126 of the ABCA4 protein (p.Leu1126Pro). This variant is present in population databases (no rsID available, gnomAD 0.003%). This missense change has been observed in individuals with ABCA4-related conditions (PMID: 25066811, 28118664, 30576320). ClinVar contains an entry for this variant (Variation ID: 236101). 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.

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.