Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000711483 | SCV000841852 | uncertain significance | not provided | 2018-08-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001220061 | SCV001392034 | uncertain significance | Charcot-Marie-Tooth disease, dominant intermediate B | 2019-06-20 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with threonine at codon 549 of the DNM2 protein (p.Ser549Thr). The serine residue is highly conserved and there is a small physicochemical difference between serine and threonine. This variant is present in population databases (rs144763522, ExAC 0.03%). This variant has not been reported in the literature in individuals with DNM2-related conditions. ClinVar contains an entry for this variant (Variation ID: 585792). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |