ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.5258C>T (p.Ala1753Val)

gnomAD frequency: 0.00001  dbSNP: rs1246253918
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002313385 SCV000739154 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-12-07 criteria provided, single submitter clinical testing The p.A1753V variant (also known as c.5258C>T), located in coding exon 37 of the MED12 gene, results from a C to T substitution at nucleotide position 5258. The alanine at codon 1753 is replaced by valine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and valine 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.
Invitae RCV003767812 SCV001219935 likely benign FG syndrome 2023-12-21 criteria provided, single submitter clinical testing
GeneDx RCV001571041 SCV001795439 likely benign not provided 2019-06-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29743117)

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