ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.2128G>A (p.Val710Met)

gnomAD frequency: 0.00001  dbSNP: rs797045697
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193668 SCV000248016 uncertain significance not specified 2014-08-13 criteria provided, single submitter clinical testing
GeneDx RCV001563161 SCV001786051 likely benign not provided 2021-06-24 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); 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; This variant is associated with the following publications: (PMID: 27535533)
Ambry Genetics RCV002415827 SCV002729973 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2018-01-18 criteria provided, single submitter clinical testing The p.V710M variant (also known as c.2128G>A), located in coding exon 15 of the MED12 gene, results from a G to A substitution at nucleotide position 2128. The valine at codon 710 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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