ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.253T>C (p.Tyr85His) (rs28940274)

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
Blueprint Genetics RCV001073456 SCV001238998 pathogenic Retinal dystrophy 2019-02-27 criteria provided, single submitter clinical testing
Invitae RCV000086109 SCV001395487 pathogenic not provided 2020-07-03 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with histidine at codon 85 of the BEST1 protein (p.Tyr85His). The tyrosine residue is highly conserved and there is a moderate physicochemical difference between tyrosine and histidine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed to segregate with autosomal dominant Best vitelliform macular dystrophy in several families (PMID: 21473666, 20375334). ClinVar contains an entry for this variant (Variation ID: 2728). This variant has been reported to affect BEST1 protein function (PMID: 23880862, 21330666, 11904445, 17110374). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000002847 SCV000023005 pathogenic Vitelliform macular dystrophy type 2 1998-07-01 no assertion criteria provided literature only
Retina International RCV000086109 SCV000118253 not provided not provided no assertion provided not provided
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000002847 SCV000926510 likely pathogenic Vitelliform macular dystrophy type 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.