Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001911448 | SCV002172477 | uncertain significance | Ehlers-Danlos syndrome, musculocontractural type 2 | 2021-02-22 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with DSE-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro497Glnfs*49) in the DSE gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 462 amino acid(s) of the DSE protein. 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. |