ClinVar Miner

Submissions for variant NM_015335.4(MED13L):c.4609C>T (p.Gln1537Ter) (rs1555243400)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657790 SCV000779543 pathogenic not provided 2018-05-11 criteria provided, single submitter clinical testing The Q1537X variant in the MED13L 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 Q1537X variant is not observed in large population cohorts (Lek et al., 2016). Additionally, the Q1537X variant has occurred de novo in this individual whose reported clinical presentation is consistent with a MED13L-related disorder. We interpret Q1537X as a pathogenic variant.

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