Total submissions: 4
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. |
Gene |
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 |