Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001210880 | SCV001382389 | uncertain significance | Charcot-Marie-Tooth disease dominant intermediate B | 2019-08-22 | criteria provided, single submitter | clinical testing | 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 DNM2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with serine at codon 866 of the DNM2 protein (p.Pro866Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. |