Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002588014 | SCV003490853 | uncertain significance | Exostoses, multiple, type 2 | 2023-04-24 | criteria provided, single submitter | clinical testing | This sequence change affects codon 179 of the EXT2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the EXT2 protein. It affects a nucleotide within the consensus splice site. 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 is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 2174607). This variant has not been reported in the literature in individuals affected with EXT2-related conditions. This variant is present in population databases (rs766384158, gnomAD 0.007%). |
| Ambry Genetics | RCV004073400 | SCV004866120 | likely benign | Inborn genetic diseases | 2023-10-13 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |