Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000086089 | SCV000692711 | uncertain significance | not provided | 2017-09-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000086089 | SCV001492985 | uncertain significance | not provided | 2022-10-12 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 99681). This variant has not been reported in the literature in individuals affected with BEST1-related conditions. This variant is present in population databases (rs200582915, gnomAD 0.04%). This sequence change replaces glutamic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 525 of the BEST1 protein (p.Glu525Ala). |
Retina International | RCV000086089 | SCV000118233 | not provided | not provided | no assertion provided | not provided |