ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4873C>T (p.His1625Tyr)

dbSNP: rs1085307968
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
GeneDx RCV000489654 SCV000577749 pathogenic not provided 2023-06-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 29555955, 33546218, 27353947)
Labcorp Genetics (formerly Invitae), Labcorp RCV000489654 SCV001376497 pathogenic not provided 2024-01-23 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 1625 of the ABCA4 protein (p.His1625Tyr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with inherited retinal dystrophy (PMID: 27353947, 29555955; Invitae). ClinVar contains an entry for this variant (Variation ID: 427117). 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%. For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Molecular Genetics, University of Zurich RCV001353028 SCV001548140 likely pathogenic Retinitis pigmentosa 19 2021-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005027567 SCV005658811 likely pathogenic Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 2023-12-29 criteria provided, single submitter 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.