Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000086161 | SCV003440482 | uncertain significance | not provided | 2022-04-09 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 235 of the BEST1 protein (p.Val235Met). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Best disease (PMID: 9700209). ClinVar contains an entry for this variant (Variation ID: 99744). 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. This variant disrupts the p.Val235 amino acid residue in BEST1. Other variant(s) that disrupt this residue have been observed in individuals with BEST1-related conditions (PMID: 11241846, 31570112), which suggests that this may be a clinically significant amino acid residue. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Retina International | RCV000086161 | SCV000118305 | not provided | not provided | no assertion provided | not provided |