Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002028858 | SCV002290297 | uncertain significance | Multiple congenital exostosis | 2021-11-15 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs376640197, gnomAD 0.006%). This sequence change affects codon 381 of the EXT1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the EXT1 protein. This variant has not been reported in the literature in individuals affected with EXT1-related conditions. 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. |