ClinVar Miner

Submissions for variant NM_030973.4(MED25):c.1076C>T (p.Thr359Met)

gnomAD frequency: 0.00004  dbSNP: rs750201507
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000699436 SCV000828148 uncertain significance Charcot-Marie-Tooth disease type 2 2022-10-13 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 359 of the MED25 protein (p.Thr359Met). This variant is present in population databases (rs750201507, gnomAD 0.004%). 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: 576841). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Breakthrough Genomics, Breakthrough Genomics RCV004692160 SCV005194751 uncertain significance not provided criteria provided, single submitter not provided

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