Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000086190 | SCV003439876 | pathogenic | not provided | 2023-03-14 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 301 of the BEST1 protein (p.Asp301Asn). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Asp301 amino acid residue in BEST1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 10331951, 11904445, 18844018, 29115605). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Experimental studies have shown that this missense change affects BEST1 function (PMID: 19029375, 19372599). 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. ClinVar contains an entry for this variant (Variation ID: 99771). This missense change has been observed in individuals with clinical features of autosomal dominant Best vitelliform macular dystrophy (PMID: 10854112; Invitae). This variant is not present in population databases (gnomAD no frequency). |
| Retina International | RCV000086190 | SCV000118334 | not provided | not provided | no assertion provided | not provided |