ClinVar Miner

Submissions for variant NM_015335.4(MED13L):c.2590A>T (p.Met864Leu) (rs886039599)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255571 SCV000322499 pathogenic not provided 2018-01-03 criteria provided, single submitter clinical testing The M864L 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 not observed in large population cohorts (Lek et al., 2016). The M864L variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Missense variants in nearby residues have been reported in the published literature (D860G) and in patients with facial dysmorphism and developmental delay or intellectual disability undergoing testing at GeneDx (P866L, P869T, P869S), supporting the functional importance of this region of the protein (Gilissen et al., 2014; Asadollahi et al., 2017). We interpret M864L as a pathogenic variant.

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