Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002621548 | SCV002955448 | uncertain significance | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2022-09-02 | criteria provided, single submitter | clinical testing | 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. This variant has been observed in individual(s) with autosomal dominant osteogenesis imperfecta (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change affects codon 850 of the COL1A2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the COL1A2 protein. |