ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.680A>G (p.Tyr227Cys)

dbSNP: rs267606677
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000086158 SCV000564702 likely pathogenic not provided 2022-03-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 24560797, 19853238, 26418331, 9700209, 10798642, 30582078, 27548040, 28559085)
Labcorp Genetics (formerly Invitae), Labcorp RCV000086158 SCV002238133 pathogenic not provided 2024-08-31 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 227 of the BEST1 protein (p.Tyr227Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with autosomal dominant Best disease (PMID: 9700209, 26418331, 28559085, 30582078). This variant is also known as p.Tyr167Cys. ClinVar contains an entry for this variant (Variation ID: 2749). 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%. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002873 SCV000023031 pathogenic Vitelliform macular dystrophy 2 2009-11-01 no assertion criteria provided literature only
OMIM RCV000002874 SCV000023032 pathogenic Retinitis pigmentosa 50 2009-11-01 no assertion criteria provided literature only
Retina International RCV000086158 SCV000118302 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.