ClinVar Miner

Submissions for variant NM_001005360.2(DNM2):c.1641C>A (p.Ala547=) (rs538253489)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530986 SCV000640227 uncertain significance Charcot-Marie-Tooth disease, dominant intermediate B 2017-08-02 criteria provided, single submitter clinical testing This sequence change affects codon 547 of the DNM2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DNM2 protein. This variant is present in population databases (rs538253489, ExAC 0.002%) but has not been reported in the literature in individuals with a DNM2-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare silent change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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