ClinVar Miner

Submissions for variant NM_030973.4(MED25):c.1108A>G (p.Thr370Ala)

gnomAD frequency: 0.00001  dbSNP: rs201553319
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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 RCV001221435 SCV001393480 uncertain significance Charcot-Marie-Tooth disease type 2 2024-10-23 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 370 of the MED25 protein (p.Thr370Ala). This variant is present in population databases (rs201553319, gnomAD 0.09%). 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: 949857). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV002562525 SCV003683414 uncertain significance Inborn genetic diseases 2021-03-25 criteria provided, single submitter clinical testing The c.1108A>G (p.T370A) alteration is located in exon 10 (coding exon 10) of the MED25 gene. This alteration results from a A to G substitution at nucleotide position 1108, causing the threonine (T) at amino acid position 370 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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