ClinVar Miner

Submissions for variant NM_030973.4(MED25):c.249A>C (p.Gln83His)

dbSNP: rs1291395600
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001172667 SCV001335730 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
GeneDx RCV002269342 SCV002552885 uncertain significance not provided 2022-01-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002558737 SCV003608380 uncertain significance Inborn genetic diseases 2022-04-07 criteria provided, single submitter clinical testing The c.249A>C (p.Q83H) alteration is located in exon 3 (coding exon 3) of the MED25 gene. This alteration results from a A to C substitution at nucleotide position 249, causing the glutamine (Q) at amino acid position 83 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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