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 2020-05-20 criteria provided, single submitter clinical testing The alteration results in an amino acid change:_x000D_ _x000D_ The c.5252C>T (p.P1751L) alteration is located in exon 37 of the MED12 gene. This alteration results from a C to T substitution at nucleotide position 5252, causing the proline (P) at amino acid position 1751 to be replaced by a leucine (L). The alteration has been observed in population databases: _x000D_ _x000D_ Based on data from the Genome Aggregation Database (gnomAD), the MED12 c.5252C>T alteration was observed in 0.002% (4/160170) of total alleles studied, including one hemizygote. The altered amino acid is conserved throughout evolution:_x000D_ _x000D_ The p.P1751 amino acid is conserved in available vertebrate species. The alteration is predicted tolerated by in silico modeling:_x000D_ _x000D_ The p.P1751L alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003767809 SCV001205755 likely benign FG syndrome 2024-10-10 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003133406 SCV003810880 uncertain significance not provided 2022-03-13 criteria provided, single submitter clinical testing
GeneDx RCV003133406 SCV005628334 uncertain significance not provided 2024-07-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 29148537)

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