ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.298T>C (p.Ser100Pro)

gnomAD frequency: 0.00001  dbSNP: rs61748530
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001074423 SCV001240006 likely pathogenic Retinal dystrophy 2019-08-16 criteria provided, single submitter clinical testing
Invitae RCV000085534 SCV001400656 pathogenic not provided 2024-01-19 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 100 of the ABCA4 protein (p.Ser100Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of ABCA4-related conditions (PMID: 11328725, 19074458; Invitae). ClinVar contains an entry for this variant (Variation ID: 99185). 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 with a positive predictive value of 95%. Experimental studies have shown that this missense change affects ABCA4 function (PMID: 24097981). For these reasons, this variant has been classified as Pathogenic.
Retina International RCV000085534 SCV000117671 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.