ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.5303A>G (p.Lys1768Arg)

dbSNP: rs1295791827
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001548681 SCV001768636 likely benign not provided 2020-12-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003761399 SCV003477299 benign FG syndrome 2023-02-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV003161080 SCV003856519 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-01-20 criteria provided, single submitter clinical testing The p.K1768R variant (also known as c.5303A>G), located in coding exon 37 of the MED12 gene, results from an A to G substitution at nucleotide position 5303. The lysine at codon 1768 is replaced by arginine, 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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