ClinVar Miner

Submissions for variant NM_030973.4(MED25):c.1590_1603del (p.Ser531fs)

dbSNP: rs1239980123
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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 RCV001920600 SCV002184834 uncertain significance Charcot-Marie-Tooth disease type 2 2021-04-05 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the MED25 gene (p.Ser531Argfs*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 217 amino acid(s) of the MED25 protein and extend the protein by an uncertain number of additional amino acid residues. 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. 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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