ClinVar Miner

Submissions for variant NM_030973.4(MED25):c.1508C>T (p.Thr503Met)

gnomAD frequency: 0.00003  dbSNP: rs759574296
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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 RCV001053245 SCV001217496 uncertain significance Charcot-Marie-Tooth disease type 2 2024-01-08 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 503 of the MED25 protein (p.Thr503Met). This variant is present in population databases (rs759574296, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with MED25-related conditions. ClinVar contains an entry for this variant (Variation ID: 849311). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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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