ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.872C>A (p.Ala291Glu)

gnomAD frequency: 0.00001  dbSNP: rs754533515
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002313389 SCV000739162 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2021-02-11 criteria provided, single submitter clinical testing The p.A291E variant (also known as c.872C>A), located in coding exon 7 of the MED12 gene, results from a C to A substitution at nucleotide position 872. The alanine at codon 291 is replaced by glutamic acid, an amino acid with dissimilar properties. Based on data from gnomAD, the A allele has an overall frequency of 0.001% (2/180167) total alleles studied, with 0 hemizygotes observed. The highest observed frequency was 0.002% (2/80340) of non-Finnish European alleles. 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.
Invitae RCV003767813 SCV002965519 likely benign FG syndrome 2022-12-06 criteria provided, single submitter clinical testing

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