ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.5206G>A (p.Ala1736Thr)

gnomAD frequency: 0.00001  dbSNP: rs1042718707
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001561169 SCV001783713 likely benign not provided 2020-04-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003597202 SCV002202478 likely benign FG syndrome 2024-10-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002334604 SCV002644435 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2018-06-12 criteria provided, single submitter clinical testing The p.A1736T variant (also known as c.5206G>A), located in coding exon 37 of the MED12 gene, results from a G to A substitution at nucleotide position 5206. The alanine at codon 1736 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and threonine is the reference amino acid in other 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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