Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000086186 | SCV002238791 | pathogenic | not provided | 2021-11-11 | criteria provided, single submitter | clinical testing | Experimental studies have shown that this missense change affects BEST1 function (PMID: 11904445, 12939260, 19372599). For these reasons, this variant has been classified as Pathogenic. This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 299 of the BEST1 protein (p.Gly299Glu). 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: 2729). This missense change has been observed in individual(s) with autosomal dominant Best vitelliform macular dystrophy (PMID: 9662395). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). |
| OMIM | RCV000002848 | SCV000023006 | pathogenic | Vitelliform macular dystrophy 2 | 1998-07-01 | no assertion criteria provided | literature only | |
| Retina International | RCV000086186 | SCV000118330 | not provided | not provided | no assertion provided | not provided |