Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000086085 | SCV001421865 | pathogenic | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects BEST1 function (PMID: 21330666, 24560797). 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: 2743). This missense change has been observed in individual(s) with autosomal recessive bestrophinopathy (PMID: 18179881, 22422030). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs121918288, gnomAD 0.004%). This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 41 of the BEST1 protein (p.Leu41Pro). |
| OMIM | RCV000002866 | SCV000023024 | pathogenic | Autosomal recessive bestrophinopathy | 2008-01-01 | no assertion criteria provided | literature only | |
| Retina International | RCV000086085 | SCV000118229 | not provided | not provided | no assertion provided | not provided |