Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Medical Genetics and Applied Genomics, |
RCV001268629 | SCV001447695 | likely pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001268629 | SCV002306566 | pathogenic | not provided | 2023-08-17 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 238 of the BEST1 protein (p.Gln238Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with Best vitelliform dystrophy (PMID: 32111077; Invitae). ClinVar contains an entry for this variant (Variation ID: 987303). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Experimental studies have shown that this missense change affects BEST1 function (PMID: 32111077). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. |