ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.2867A>G (p.Lys956Arg)

dbSNP: rs1569481527
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002313494 SCV000848491 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-12-14 criteria provided, single submitter clinical testing The p.K956R variant (also known as c.2867A>G), located in coding exon 21 of the MED12 gene, results from an A to G substitution at nucleotide position 2867. The lysine at codon 956 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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