ClinVar Miner

Submissions for variant NM_015335.5(MED13L):c.2779G>A (p.Glu927Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004818979 SCV005439003 uncertain significance Cardiac anomalies - developmental delay - facial dysmorphism syndrome 2023-07-22 criteria provided, single submitter clinical testing The observed missense c.2779G>Ap.Glu927Lys variant in MED13L gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in gnomAD Exomes. The amino acid Glu at position 927 is changed to a Lys changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Glu927Lys in MED13L is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. Multiple lines of computational evidence Polyphen - Damaging, SIFT - Damaging, and MutationTaster - Disease causing predict a damaging effect on protein structure and function for this variant. For these reasons, this variant has been classified as Uncertain Significance.

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