ClinVar Miner

Submissions for variant NM_030973.4(MED25):c.2192C>T (p.Pro731Leu)

gnomAD frequency: 0.00001  dbSNP: rs765135124
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001043499 SCV001207249 uncertain significance Charcot-Marie-Tooth disease type 2 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 731 of the MED25 protein (p.Pro731Leu). This variant is present in population databases (rs765135124, gnomAD 0.007%). This missense change has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 32376792). ClinVar contains an entry for this variant (Variation ID: 841303). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Molecular Genetics Laboratory, London Health Sciences Centre RCV001172663 SCV001335726 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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