Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Blueprint Genetics | RCV001075881 | SCV001241522 | likely pathogenic | Retinal dystrophy | 2019-08-15 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000086134 | SCV001591337 | pathogenic | not provided | 2022-08-31 | criteria provided, single submitter | clinical testing | This variant disrupts the p.Arg141 amino acid residue in BEST1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 16754206, 18179881, 21330666, 21809908). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. 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: 99721). This missense change has been observed in individual(s) with autosomal recessive Best vitelliform macular dystrophy (PMID: 21320969). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 141 of the BEST1 protein (p.Arg141Ser). |
| Retina International | RCV000086134 | SCV000118278 | not provided | not provided | no assertion provided | not provided |