Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000086098 | SCV001574114 | pathogenic | not provided | 2023-03-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Thr6 amino acid residue in BEST1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 16769844). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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: 99689). This missense change has been observed in individuals with autosomal dominant Best vitelliform macular dystrophy (PMID: 17477921, 17591911; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with arginine, which is basic and polar, at codon 6 of the BEST1 protein (p.Thr6Arg). |
| Gene |
RCV000086098 | SCV004169028 | likely pathogenic | not provided | 2023-11-10 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 23633665, 17477921, 17591911, 17460247, 10798642, 32278767) |
| Retina International | RCV000086098 | SCV000118242 | not provided | not provided | no assertion provided | not provided |