ClinVar Miner

Submissions for variant NM_030973.4(MED25):c.733G>C (p.Val245Leu)

gnomAD frequency: 0.00014  dbSNP: rs771068558
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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 RCV001360191 SCV001556095 uncertain significance Charcot-Marie-Tooth disease type 2 2022-06-07 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 245 of the MED25 protein (p.Val245Leu). This variant is present in population databases (rs771068558, gnomAD 0.03%). 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: 1052073). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 RCV002547739 SCV003680609 uncertain significance Inborn genetic diseases 2025-01-23 criteria provided, single submitter clinical testing The c.733G>C (p.V245L) alteration is located in exon 7 (coding exon 7) of the MED25 gene. This alteration results from a G to C substitution at nucleotide position 733, causing the valine (V) at amino acid position 245 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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