ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.2173A>G (p.Met725Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001211719 SCV001383272 uncertain significance Charcot-Marie-Tooth disease, dominant intermediate B 2019-07-31 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 725 of the DNM2 protein (p.Met725Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs757876109, ExAC 0.01%). This variant has not been reported in the literature in individuals with DNM2-related conditions. 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: "Probably 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.

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