ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.3693G>T (p.Gly1231=)

gnomAD frequency: 0.00002  dbSNP: rs965896553
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003596524 SCV000827680 uncertain significance FG syndrome 2018-05-12 criteria provided, single submitter clinical testing This sequence change affects codon 1231 of the MED12 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MED12 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MED12-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV003344009 SCV004051612 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-06-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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