ClinVar Miner

Submissions for variant NM_030973.4(MED25):c.1132G>A (p.Gly378Ser)

gnomAD frequency: 0.00020  dbSNP: rs138166258
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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 RCV000690626 SCV000818323 uncertain significance Charcot-Marie-Tooth disease type 2 2022-09-01 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 378 of the MED25 protein (p.Gly378Ser). This variant is present in population databases (rs138166258, gnomAD 0.06%). 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: 569885). 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.
Ambry Genetics RCV004025061 SCV004902582 uncertain significance Inborn genetic diseases 2023-10-03 criteria provided, single submitter clinical testing The c.1132G>A (p.G378S) alteration is located in exon 10 (coding exon 10) of the MED25 gene. This alteration results from a G to A substitution at nucleotide position 1132, causing the glycine (G) at amino acid position 378 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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