ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.733A>G (p.Lys245Glu)

dbSNP: rs2071429703
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001339815 SCV001533584 uncertain significance Charcot-Marie-Tooth disease dominant intermediate B 2021-01-18 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. 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: "Benign"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals with DNM2-related conditions. This sequence change replaces lysine with glutamic acid at codon 245 of the DNM2 protein (p.Lys245Glu). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamic acid.

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