ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.253T>C (p.Tyr85His)

dbSNP: rs28940274
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073456 SCV001238998 pathogenic Retinal dystrophy 2019-02-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000086109 SCV001395487 pathogenic not provided 2024-11-18 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 85 of the BEST1 protein (p.Tyr85His). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with autosomal dominant Best vitelliform macular dystrophy (PMID: 20375334, 21473666). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 2728). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt BEST1 protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects BEST1 function (PMID: 11904445, 17110374, 21330666, 23880862). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV001073456 SCV005070669 pathogenic Retinal dystrophy 2017-01-01 criteria provided, single submitter clinical testing
OMIM RCV000002847 SCV000023005 pathogenic Vitelliform macular dystrophy 2 1998-07-01 no assertion criteria provided literature only
Retina International RCV000086109 SCV000118253 not provided not provided no assertion provided not provided
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000002847 SCV000926510 likely pathogenic Vitelliform macular dystrophy 2 2018-04-01 no assertion criteria provided research

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.