Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002635484 | SCV002975774 | uncertain significance | Ehlers-Danlos syndrome, musculocontractural type | 2022-08-09 | criteria provided, single submitter | clinical testing | This sequence change affects codon 231 of the CHST14 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the CHST14 protein. This variant is present in population databases (no rsID available, gnomAD 0.1%). This variant has not been reported in the literature in individuals affected with CHST14-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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. |