Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000416279 | SCV000493452 | uncertain significance | not provided | 2016-07-01 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000516502 | SCV000613149 | uncertain significance | not specified | 2016-11-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000641098 | SCV000762720 | uncertain significance | Charcot-Marie-Tooth disease, dominant intermediate B | 2017-10-25 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine with valine at codon 486 of the DNM2 protein (p.Ile486Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs758246840, ExAC 0.006%). This variant has not been reported in the literature in individuals with DNM2-related disease. ClinVar contains an entry for this variant (Variation ID: 374611). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; 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. |