ClinVar Miner

Submissions for variant NM_030973.4(MED25):c.906C>G (p.Arg302=)

dbSNP: rs1182901692
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000799090 SCV000938738 uncertain significance Charcot-Marie-Tooth disease type 2 2018-12-14 criteria provided, single submitter clinical testing This sequence change affects codon 302 of the MED25 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MED25 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MED25-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus 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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