ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.5653G>A (p.Val1885Ile)

gnomAD frequency: 0.00002  dbSNP: rs762659794
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003762890 SCV000950762 likely benign FG syndrome 2023-11-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001310731 SCV001500641 uncertain significance not provided 2020-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003307502 SCV003998757 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-03-19 criteria provided, single submitter clinical testing The p.V1885I variant (also known as c.5653G>A), located in coding exon 39 of the MED12 gene, results from a G to A substitution at nucleotide position 5653. The valine at codon 1885 is replaced by isoleucine, 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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