ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.796C>T (p.Arg266Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001231429 SCV001403950 uncertain significance Charcot-Marie-Tooth disease, dominant intermediate B 2019-09-25 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 266 of the DNM2 protein (p.Arg266Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs552366130, ExAC 0.01%). This variant has been observed in an individual affected with inherited peripheral neuropathy (PMID: 27549087). 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 C15"). 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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