ClinVar Miner

Submissions for variant NM_030973.4(MED25):c.1090G>A (p.Ala364Thr)

gnomAD frequency: 0.00013  dbSNP: rs370994862
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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 RCV001060593 SCV001225293 uncertain significance Charcot-Marie-Tooth disease type 2 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 364 of the MED25 protein (p.Ala364Thr). This variant is present in population databases (rs370994862, gnomAD 0.07%). This missense change has been observed in individual(s) with clinical features of MED25-related conditions (PMID: 32376792). ClinVar contains an entry for this variant (Variation ID: 855342). 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.
Molecular Genetics Laboratory, London Health Sciences Centre RCV001172665 SCV001335728 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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