ClinVar Miner

Submissions for variant NM_001005360.2(DNM2):c.2531C>T (p.Pro844Leu) (rs1398139585)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000541379 SCV000640239 uncertain significance Charcot-Marie-Tooth disease, dominant intermediate B 2017-03-31 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 844 of the DNM2 protein (p.Pro844Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a 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: "Tolerated"; PolyPhen-2: "Unknown"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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