ClinVar Miner

Submissions for variant NM_005120.3(MED12):c.473G>A (p.Trp158Ter)

dbSNP: rs1556334114
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498872 SCV000590444 pathogenic not provided 2018-08-13 criteria provided, single submitter clinical testing The W158X variant in the MED12 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W158X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret W158X as a pathogenic variant.

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