ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.5252C>T (p.Pro1751Leu)

dbSNP: rs748064846
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002313377 SCV000739135 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-10-26 criteria provided, single submitter clinical testing The p.P1751L variant (also known as c.5252C>T), located in coding exon 37 of the MED12 gene, results from a C to T substitution at nucleotide position 5252. The proline at codon 1751 is replaced by leucine, an amino acid with similar properties. This amino acid position is highly conserved in available 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.
Ambry Genetics RCV000624172 SCV000741070 uncertain significance Inborn genetic diseases 2015-10-15 criteria provided, single submitter clinical testing
Invitae RCV003767809 SCV001205755 likely benign FG syndrome 2022-08-23 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003133406 SCV003810880 uncertain significance not provided 2022-03-13 criteria provided, single submitter clinical testing

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