Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000086168 | SCV004295772 | pathogenic | not provided | 2023-08-10 | criteria provided, single submitter | clinical testing | Experimental studies have shown that this missense change affects BEST1 function (PMID: 21878505). 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: 99750). This missense change has been observed in individuals with autosomal dominant BEST1-related conditions (PMID: 9700209, 21077756, 25082885). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tryptophan, which is neutral and slightly polar, with cysteine, which is neutral and slightly polar, at codon 24 of the BEST1 protein (p.Trp24Cys). |
Retina International | RCV000086168 | SCV000118312 | not provided | not provided | no assertion provided | not provided |