ClinVar Miner

Submissions for variant NM_001005360.2(DNM2):c.596G>A (p.Arg199Gln) (rs1568294706)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697333 SCV000825935 uncertain significance Charcot-Marie-Tooth disease, dominant intermediate B 2018-05-25 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 199 of the DNM2 protein (p.Arg199Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DNM2-related disease. 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: "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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