ClinVar Miner

Submissions for variant NM_015335.4(MED13L):c.4387G>A (p.Gly1463Arg) (rs1555243607)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658016 SCV000779787 likely pathogenic not provided 2018-05-09 criteria provided, single submitter clinical testing The G1463R variant in the MED13L gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G1463R variant is not observed [at a significant frequency] in large population cohorts (Lek et al., 2016). The G1463R variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret G1463R as a likely pathogenic variant.
Ambry Genetics RCV001265754 SCV001443923 uncertain significance Inborn genetic diseases 2020-02-27 criteria provided, single submitter clinical testing

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