ClinVar Miner

Submissions for variant NM_004183.4(BEST1):c.900G>C (p.Glu300Asp)

dbSNP: rs1805144
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
Blueprint Genetics RCV001074846 SCV001240447 pathogenic Retinal dystrophy 2019-07-24 criteria provided, single submitter clinical testing
Invitae RCV000086189 SCV001396694 pathogenic not provided 2023-08-16 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 300 of the BEST1 protein (p.Glu300Asp). This variant is present in population databases (rs1805144, gnomAD 0.0009%). This missense change has been observed in individuals with autosomal dominant Best macular dystrophy (PMID: 10331951, 13129869, 28559085). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 99770). 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 BEST1 protein function. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000086189 SCV001779449 pathogenic not provided 2022-01-21 criteria provided, single submitter clinical testing Published functional studies demonstrate that the presence of the variant results in a significant reduction in function (Sun et al., 2002); Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 19375515, 11904445, 13129869, 28559085, 32239196, 10331951)
Retina International RCV000086189 SCV000118333 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.