ClinVar Miner

Submissions for variant NM_030973.4(MED25):c.287C>G (p.Thr96Ser)

dbSNP: rs2123862294
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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 RCV001992788 SCV002224567 uncertain significance Charcot-Marie-Tooth disease type 2 2021-10-25 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MED25-related conditions. This sequence change replaces threonine with serine at codon 96 of the MED25 protein (p.Thr96Ser). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and serine. This variant is not present in population databases (ExAC no frequency). 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.

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