Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002232963 | SCV000832971 | uncertain significance | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2018-05-01 | criteria provided, single submitter | clinical testing | This sequence change results in a premature translational stop signal in the COL1A2 gene (p.Glu1355*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 12 amino acids of the COL1A2 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with COL1A2-related disease (Invitae). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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. |