Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002241142 | SCV001393539 | uncertain significance | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2019-07-15 | criteria provided, single submitter | clinical testing | Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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 not been reported in the literature in individuals with COL1A2-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.1535_1543dup, results in the insertion of 3 amino acid(s) to the COL1A2 protein (p.His512_Gly514dup), but otherwise preserves the integrity of the reading frame. |