ClinVar Miner

Submissions for variant NM_030973.4(MED25):c.2099del (p.Pro700fs)

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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 RCV005070471 SCV005702302 uncertain significance Charcot-Marie-Tooth disease type 2 2024-07-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro700Leufs*21) in the MED25 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 48 amino acid(s) of the MED25 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MED25-related conditions. 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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