Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000086199 | SCV004295789 | pathogenic | not provided | 2023-03-14 | criteria provided, single submitter | clinical testing | 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. This variant disrupts the p.Glu306 amino acid residue in BEST1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 19029375; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 99780). This missense change has been observed in individuals with clinical features of autosomal dominant BEST1-related conditions (PMID: 10798642, 26201355; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 306 of the BEST1 protein (p.Glu306Asp). |
| Retina International | RCV000086199 | SCV000118343 | not provided | not provided | no assertion provided | not provided |