ClinVar Miner

Submissions for variant NM_001005361.3(DNM2):c.54C>A (p.Asp18Glu)

dbSNP: rs2068819294
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001207084 SCV001378423 uncertain significance Charcot-Marie-Tooth disease dominant intermediate B 2019-08-23 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glutamic acid at codon 18 of the DNM2 protein (p.Asp18Glu). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with DNM2-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database.

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