ClinVar Miner

Submissions for variant NM_030973.4(MED25):c.117C>G (p.Tyr39Ter)

gnomAD frequency: 0.00001  dbSNP: rs749356375
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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 RCV000705354 SCV000834346 uncertain significance Charcot-Marie-Tooth disease type 2 2020-03-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr39*) in the MED25 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs749356375, ExAC 0.002%). This variant has not been reported in the literature in individuals with MED25-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in MED25 cause disease. 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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