ClinVar Miner

Submissions for variant NM_001005360.2(DNM2):c.699C>T (p.Gly233=) (rs751844947)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474419 SCV000553367 uncertain significance Charcot-Marie-Tooth disease, dominant intermediate B 2018-01-19 criteria provided, single submitter clinical testing This sequence change affects codon 233 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 (rs751844947, ExAC 0.006%). This variant has not been reported in the literature in individuals with DNM2-related disease. ClinVar contains an entry for this variant (Variation ID: 411951). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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