Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002620839 | SCV003511780 | uncertain significance | Exostoses, multiple, type 2 | 2021-12-25 | 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. This variant has not been reported in the literature in individuals affected with EXT2-related conditions. This variant is present in population databases (rs779001336, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 149 of the EXT2 protein (p.Arg149Gln). |
Baylor Genetics | RCV002620839 | SCV004192797 | uncertain significance | Exostoses, multiple, type 2 | 2023-10-03 | criteria provided, single submitter | clinical testing |