ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.1862G>A (p.Arg621Gln) (rs1057519381)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Genetics,Oslo University Hospital RCV000416709 SCV000267110 likely pathogenic FG syndrome 2016-04-15 criteria provided, single submitter clinical testing Hemizygosity for c.1862G>A was detected in the proband and an affected fetus. The variant was inherited from the unaffected mother were the mutated allele was completely inactivated in blood (100:0 skewed X chromosome inactivation). The variant was found to be de novo in the mother. The variant predicts the amino acid substitution p.Arg621Gln. The Arg621 is conserved across species from human to xenopus as well as in the paralog MED12L. The variant has not been reported in ExAc (Oct2015).

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