ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.6079A>G (p.Ile2027Val)

gnomAD frequency: 0.00004  dbSNP: rs750648216
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003768957 SCV001214039 likely benign FG syndrome 2023-07-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003283902 SCV004003939 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-04-07 criteria provided, single submitter clinical testing The p.I2027V variant (also known as c.6079A>G), located in coding exon 42 of the MED12 gene, results from an A to G substitution at nucleotide position 6079. The isoleucine at codon 2027 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. 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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