ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.2227-4G>A

gnomAD frequency: 0.00002  dbSNP: rs751157238
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003596578 SCV000941050 uncertain significance FG syndrome 2018-07-09 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with MED12-related disease. This variant is present in population databases (rs751157238, ExAC 0.03%). This sequence change falls in intron 15 of the MED12 gene. It does not directly change the encoded amino acid sequence of the MED12 protein.

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