ClinVar Miner

Submissions for variant NM_015335.4(MED13L):c.2605C>A (p.Pro869Thr) (rs1057524103)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000429083 SCV000534569 likely pathogenic not provided 2018-02-23 criteria provided, single submitter clinical testing The P869T variant in the MED13L gene has not been reported previously as a pathogenic variant,nor as a benign variant, to our knowledge. The P869T variant was not observed in approximately6500 individuals of European and African American ancestry in the NHLBI Exome SequencingProject, indicating it is not a common benign variant in these populations. The P869T variant is anon-conservative amino acid substitution, which is likely to impact secondary protein structure asthese residues differ in polarity, charge, size and/or other properties. This substitution occurs at aposition that is conserved across species and in silico analysis predicts this variant is probablydamaging to the protein structure/function. The P869T variant is a strong candidate for a pathogenicvariant.

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